6. Conclusion
Our conceptual thinking about hearing is confined, in part, by the “deafness” genes that have and have not identified. The proper development of the auditory system and its associated electromechanical processes requires the orchestrated temporal and spatial expression of numerous different genes. Further characterization of the genes for hearing loss will provide a clearer vision of the structure and function of the auditory system in health and disease. It is hoped that these discoveries will establish a conceptual basis for the rational therapy of hearing loss and deafness.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15:157–164.
Abe S, Usami S, Shinkawa H (1997) Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct. Ann Otol Rhinol Laryngol 106:1063–1069.
Ackerman MJ (1998) The long QT syndrome: Ion channel diseases of the heart. Mayo Clin Proc 73:250–269.
Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B (1997) Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. Am J Hum Genet 61:813–821.
Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH (1998) Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. Hum Mol Genet 7:75–83.
Altmann F, Glasgold A, Macduff JP (1967) The incidence of otosclerosis as related to race and sex. Ann Otol Rhinol Laryngol 76:377–392.
Amiel J, Attie T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fekete C, Munnich A, Lyonnet S (1996) Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet 5:355–357.
Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, Wu D, Kachar B, Friedman TB, Raphael Y, Camper S A (2000) The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. Hum Mol Genet 9:1729–1738.
Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, Tranebjarg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L (1999) Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet 65:974–983.
Arias S, Mota M (1978) Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum. J Genet Hum 26:103–131.
Asher JH, Jr., Friedman TB (1990) Mouse and hamster mutants as models for Waardenburg syndromes in humans. J Med Genet 27:618–626.
Asher JH, Jr., Harrison RW, Morell R, Carey ML, Friedman TB (1996) Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: A murine model of Waardenburg syndrome variation. Genomics 34:285–298.
Asher JH, Jr., Morell R, Friedman TB (1991) Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RELP markers on human chromosome 2q. Am J Hum Genet 48:43–52.
Asher JH, Jr., Sommer A, Morell R, Friedman TB (1996) Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Hum Mutat 7:30–35.
Attie T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S (1995) Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet 4:2407–2409.
Avraham KB, Hasson T, Sobe T, Balsara B, Testa JR, Skvorak AB, Morton CC, Copeland NG, Jenkins NA (1997) Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice. Hum Mol Genet 6:1225–1231.
Avraham KB, Hasson T, Steel KP, Kingsley DM, Russell LB, Mooseker MS, Copeland NG, Jenkins NA (1995) The mouse Snell’s waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nat Genet 11:369–375.
Ayme S, Preus M (1984) The Marshall and Stickler syndromes: Objective rejection of lumping. J Med Genet 21:34–38.
Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GA, Cremers CW, Cremers FP, et al. (1992) Micro-deletions in patients with gusher-associated, X-linked mixed deafness (DFN3). Am J Hum Genet 51:38–44.
Baker JP, Titus MA (1998) Myosins: Matching functions with motors. Curr Opin Cell Biol 10:80–86.
Balciuniene J, Dahl N, Borg E, Samuelsson E, Koisti MJ, Pettersson U, Jazin EE (1998) Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family. Am J Hum Genet 63:786–793.
Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A (1992) An exonic mutation in the HuP2 paired domain gene causes Waardenburg’s syndrome. Nature 355:637–638.
Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B, Kidd KK, Korostishevsky M, Bonne-Tamir B (1995) Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum Mol Genet 4:1637–1642.
Barber TD, Barber MC, Cloutier TE, Friedman TB (1999) PAX3 gene structure, alternative splicing and evolution. Gene 237:311–319.
Bard LA (1978) Heterogeneity in Waardenburg’s syndrome. Report of a family with ocular albinism. Arch Ophthalmol 96:1193–1198.
Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224–1227.
Bauer J, Stein C (1925) Vererbung und Konstitution bei Ohrenkrankheiten. Z Konstitutionslehre 10:483–545.
Belal A, Jr. (1975) Usher’s syndrome. (Retinitis pigmentosa and deafness). A temporal bone report. J Laryngol Otol 89:175–181.
Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, Pericak-Vance MA, Ben Hamida M, Vance JM (1993) Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet 2:1625–1628.
Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA, et al. (1993) Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 17:370–375.
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039–2042.
Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F (1988) Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue. J Biol Chem 263:17159–17166.
Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick RJ (1989) Fabry disease: Six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest 83:1390–1399.
Bidaud C, Salomon R, Van Camp G, Pelet A, Attie T, Eng C, Bonduelle M, Amiel J, Nihoul-Fekete C, Willems PJ, Munnich A, Lyonnet S (1997) Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Eur J Hum Genet 5:247–251.
Bitner-Glindzicz M, Turnpenny P, Hoglund P, Kaariainen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M, et al. (1995) Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet 4:1467–1469.
Bober E, Franz T, Arnold HH, Gruss P, Tremblay P (1994) Pax-3 is required for the development of limb muscles: A possible role for the migration of dermomyotomal muscle progenitor cells. Development 120:603–612.
Boensch D, Scheer P, Storch P, Neumann C, Deufel T, Lamprecht-Dinnesen A (1998) Mapping of a further type of autosomal dominant, non-syndromic hearing impairment (DFNA18) to chromosome 3q22. Am J Hum Genet 63:A282.
Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M (1996) Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet 5:1051–1054.
Bonne-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA (1996) Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet 58:1254–1259.
Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grunfeld JP, Palcoux JB, Gubler MC, Antignac C (1998) Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive alport syndrome. Am J Hum Genet 63:1329–1340.
Briault S, Hill R, Shrimpton A, Zhu D, Till M, Ronce N, Margaritte-Jeannin P, Baraitser M, Middleton-Price H, Malcolm S, Thompson E, Hoo J, Wilson G, Romano C, Guichet A, Pembrey M, Fontes M, Poustka A, Moraine C (1997) A gene for FG syndrome maps in the Xq12-q21.31 region. Am J Med Genet 73:87–90.
Brown KA, Janjua AH, Karbani G, Parry G, Noble A, Crockford G, Bishop DT, Newton VE, Markham AF, Mueller RF (1996) Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. Hum Mol Genet 5:169–173.
Brown MR, Tomek MS, Van Laer L, Smith S, Kenyon JB, Van Camp G, Smith RJ (1997) A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. Am J Hum Genet 61:924–927.
Brownstein Z, Friedlander Y, Peritz E, Cohen T (1991) Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling. Am J Med Genet 41:306–312.
Bruzzone R, White TW, Paul DL (1996) Connections with connexins: The molecular basis of direct intercellular signaling. Eur J Biochem 238:1–27.
Byers PH (1993) Osteogenesis imperfecta. In: (Royce PM, Steinmann B eds) Connective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical Aspects. New York: Wiley-Liss, pp. 317–350.
Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF (1997) A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. J Med Genet 3:1015–1017.
Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (1997) Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 6:2163–2172.
Cassady G (1966) Hereditary renal dysfunction and deafness. Ala J Med Sci 3:476–478.
Causse JR, Causse JB (1984) Otospongiosis as a genetic disease. Early detection, medical management, and prevention. Am J Otol 5:211–223.
Causse JR, Causse JB, Uriel J, Berges J, Shambaugh GE, Jr., Bretlau P (1993) Sodium fluoride therapy. Am J Otol 14:482–490.
Celis-Blaubach A, Garcia-Zozaya JL, Perez-Requejo JL, Brasse K (1974) Vestibular disorders in Alport’s syndrome. J Laryngol Otol 88:663–674.
Chaib H, Lina-Granade G, Guilford P, Plauchu H, Levilliers J, Morgon A, Petit C (1994) A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum Mol Genet 3:2219–2222.
Chaib H, Place C, Salem N, Chardenoux S, Vincent C, Weissenbach J, El-Zir E, Loiselet J, Petit C (1996a) A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum Mol Genet 5:155–158.
Chaib H, Place C, Salem N, Dode C, Chardenoux S, Weissenbach J, el Zir E, Loiselet J, Petit C (1996b) Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet 5:1061–1064.
Chan KH, Eelkema EA, Furman JM, Kamerer DB (1991) Familial sensorineural hearing loss: A correlative study of audiologic, radiographic, and vestibular findings. Ann Otol Rhinol Laryngol 100:620–625.
Chen A, Wayne S, Bell A, Ramesh A, Srisailapathy CR, Scott DA, Sheffield VC, Van Hauwe P, Zbar RI, Ashley J, Lovett M, Van Camp G, Smith RJ (1997) New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. Am J Med Genet 71:467–471.
Chen AH, Ni L, Fukushima K, Marietta J, O’Neill M, Coucke P, Willems P, Smith RJ (1995) Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Hum Mol Genet 4:1073–1076.
Chiricosta A, Jindal SL, Metuzals J, Koch B (1970) Hereditary nephropathy with hematuria (Alport’s syndrome). Can Med Assoc J 102:396–401.
Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ (1999) Clinical studies of families with hearing loss due to mutations in the Connexin 26 gene (GJB2/DFNB1). Pediatrics 103.
Collin GB, Marshall JD, Cardon LR, Nishina PM (1997) Homozygosity mapping at Alstrom syndrome to chromosome 2p. Hum Mol Genet 6:213–219.
Cope MJT, Whisstock J, Rayment I, Kendrick-Jones J (1996) Conservation within the myosin motor domain: implications for structure and function. Structure 4:969–987.
Cosgrove D, Meehan DT, Grunkemeyer JA, Kornak JM, Sayers R, Hunter WJ, Samuelson GC (1996) Collagen COL4A3 knockout: A mouse model for autosomal Alport syndrome. Genes Dev 10:2981–2992.
Cosgrove D, Samuelson G, Meehan DT, Miller C, McGee J, Walsh EJ, Siegel M (1998) Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome. Hear Res 121:84–98.
Cosgrove D, Samuelson G, Pinnt J (1996) Immunohistochemical localization of basement membrane collagens and associated proteins in the murine cochlea. Hear Res 97:54–65.
Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CW, Kimberling WJ, et al. (1994) Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med 331:425–431.
Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G (1999) Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet 8:1321–1328.
Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R (1996) Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 12:421–423.
Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC (1998) Molecular analysis of the PDS gene in pendred syndrome. Hum Mol Genet 7:1105–1112.
Cremers CW, Delleman WJ (1988) Usher’s syndrome, temporal bone pathology. Int J Pediatr Otorhinolaryngol 16:23–30.
Cremers CW, Hombergen GC, Scaf JJ, Huygen PL, Volkers WS, Pinckers AJ (1985) X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery. Arch Otolaryngol 111:249–254.
Cremers WR, Bolder C, Admiraal RJ, Everett LA, Joosten FB, van Hauwe P, Green ED, Otten BJ (1998) Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. Arch Otolaryngol Head Neck Surg 124:501–505.
D’Souza VN, Nguyen TM, Morris GE, Karges W, Pillers DA, Ray PN (1995) A novel dystrophin isoform is required for normal retinal electrophysiology. Hum Mol Genet 4:837–842.
da-Silva EO (1991) Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review. Am J Med Genet 40:65–74.
Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P (1996) A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 13:458–460.
de Kok YJ, Merkx GF, van der Maarel SM, Huber I, Malcolm S, Ropers HH, Cremers FP (1995) A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. Hum Mol Genet 4:2145–2150.
de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP (1996) Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet 5:1229–1235.
de Kok YJM, Bom SJH, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PLM, Verhagen WIM, Brunner HG, Cremers C, Cremers FPM (1999) A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Hum Mol Genet 8:361–366.
del Castillo I, Villamar M, Sarduy M, Romero L, Herraiz C, Hernandez FJ, Rodriguez M, Borras I, Montero A, Bellon J, Tapia MC, Moreno F (1996) A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. Hum Mol Genet 5:1383–1387.
Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, Levi-Acobas F, Weil D, Petit C (1998) Connexin 26 gene linked to a dominant deafness. Nature 393:319–320.
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-ElGaied A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Petit C, et al. (1997) Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6:2173–2177.
DeStefano AL, Cupples LA, Arnos KS, Asher JH, Jr., Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA (1998) Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet 102:499–506.
Dodson HC, Piper TA, Clarke JD, Quinlivan RM, Dickson G (1995) Dystrophin expression in the hair cells of the cochlea. J Neurocytol 24:625–632.
Douville PJ, Atanasoski S, Tobler A, Fontana A, Schwab ME (1994) The brainspecific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X chromosomes. Mamm Genome 5:180–182.
Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12:442–444.
Epstein DJ, Vekemans M, Gros P (1991) Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67:767–774.
Erkman L, McEvilly RJ, Luo L, Ryan AK, Hooshmand F, O’Connell SM, Keithley EM, Rapaport DH, Ryan AF, Rosenfeld MG (1996) Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. Nature 381:603–606.
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D’Agruma L, Mansfield E, Rappaport E, Govea N, Mila M, Zelante L, Gasparini P (1998) Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351:394–398.
Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J (1998) Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280:1753–1757.
Evans KL, Fantes J, Simpson C, Arveiler B, Muir W, Fletcher J, van Heyningen V, Steel KP, Brown KA, Brown SDM, St. Clair D, Porteous DJ (1993) Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I. Human Molecular Genetics 2:115–118.
Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411–422.
Everett LA, Morsli H, Wu DK, Green ED (1999) Expression pattern of the mouse ortholog of the Pendred’s syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA 96:9727–9732.
Fagerheim T, Nilssen O, Raeymaekers P, Brox V, Moum T, Elverland HH, Teig E, Omland HH, Fostad GK, Tranebjaerg L (1996) Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family. Hum Mol Genet 5:1187–1191.
Farrer LA, Arnos KS, Asher JH, Jr., Baldwin CT, Diehl SR, Friedman TB, Greenberg J, Grundfast KM, Hoth C, Lalwani AK, et al. (1994) Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet 55:728–737.
Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH, Jr., Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, et al. (1992) Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium. Am J Hum Genet 50:902–913.
Feinmesser M, Tell L, Levi H (1990) Decline in the prevalence of childhood deafness in the Jewish population of Jerusalem: Ethnic and genetic aspects. J Laryngol Otol 104:675–677.
Fisch L (1959) Deafness as part of an hereditary syndrome. J Laryngol Otol 73:355–382.
Fischel-Ghodsian N (1998) Mitochondrial mutations and hearing loss: Paradigm for mitochondrial genetics. Am J Hum Genet 62:15–19.
Flinter F (1993) Molecular genetics of Alport’s syndrome. Q J Med 86:289–292.
Fowler EP (1966) Otosclerosis in identical twins. A study of 40 pairs. Arch Otolaryngol 83:324–328.
Foy C, Newton V, Wellesley D, Harris R, Read AP (1990) Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. Am J Hum Genet 46:1017–1023.
Fransen E, Verstreken M, Verhagen WI, Wuyts FL, Huygen PL, D’Haese P, Robertson NG, Morton CC, McGuirt WT, Smith RJ, Declau F, Van de Heyning PH, Van Camp G (1999) High prevalence of symptoms of Meniere’s disease in three families with a mutation in the COCH gene. Hum Mol Genet 8:1425–1429.
Fraser GA (1976) The Causes of Deafness in Childhood. Baltimore: Johns Hopkins Press.
Fraser GR (1965) Association of congenital deafness with goiter (Pendred’s syndrome). A study of 207 families. Ann Hum Genet 28:201–249.
Fraser GR (1965) Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. Ann Hum Genet 29:171–196.
Fraser GR (1960) The syndrome of sporadic goiter and congenital deafness. Quart J Med 29:279–295.
Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, Arhya IN, Asher JH, Jr (1995) A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet 9:86–91.
Friedman TB, Probst FJ, Wilcox ER, Hinnant JT, Liang Y, Wang A, Barber TD, Lalwani AK, Anderson DW, Arhya IN, Winata S, Moeljapowiro S, Asher JH, Jr., Dolan D, Raphael Y, Fridell RA, Camper SA (2000) The myosin-15 molecular motor is necessary for hearing in humans and mice: A review of DFNB3 and shaker2. In: Berlin CI, Keats BJB (eds) Genetics and Hearing Loss. San Diego: Singular Publishing Group, pp. 31–46.
Friedmann I, Fraser GR, Froggatt P (1968) Pathology of the ear in the cardio-auditory syndrome of Jervell and Lange-Nielsen. Report of a third case with an appendix on possible linkage with the Rh blood group locus. J Laryngol Otol 82:883–896.
Friedmann I, Fraser GR, Froggatt P (1966) Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen (recessive deafness with electrocardiographic abnormalities). J Laryngol Otol 80:451–470.
Frydman M, Vreugde S, Nageris BI, Weiss S, Vahava O, Avraham KB (2000) Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor. Arch Otolaryngol Head Neck Surg 126:633–637.
Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA (1995) Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 9:92–95.
Fukushima K, Kasai N, Ueki Y, Nishizaki K, Sugata K, Hirakawa S, Masuda A, Gunduz M, Ninomiya Y, Masuda Y, Sato M, McGuirt WT, Coucke P, Van Camp G, Smith RJ (1999) A gene for fluctuating, progressive autosomal dominant non-syndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3. Am J Hum Genet 65:141–150.
Fukushima K, Ramesh A, Srisailapathy CR, Ni L, Chen A, O’Neill M, Van Camp G, Coucke P, Smith SD, Kenyon JB, et al. (1995) Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum Mol Genet 4:1643–1648.
Fukushima K, Ramesh A, Srisailapathy CR, Ni L, Wayne S, O’Neill ME, Van Camp G, Coucke P, Jain P, Wilcox ER, et al. (1995) An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6. Genome Res 5:305–308.
Fukushima Y, Ohashi H, Hasegawa T (1993) The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization. Clin Genet 44:50.
Gabriel HD, Jung D, Butzler C, Temme A, Traub O, Winterhager E, Willecke K (1998) Transplacental uptake of glucose is decreased in embryonic lethal connexin 26-deficient mice. J Cell Biol 140:1453–1461.
Gapany-Gapanaviscius B (1975) Otosclerosis: Genetics and Surgical Rehabilitation. Jerusalem: Keter.
Garetz SL, Schacht J (1996) Ototoxicity: Of mice and men. In: Water VD, Popper AN, Fay RR (eds) Clinical Aspects of Hearing. New York: Springer-Verlag, pp. 116–154.
Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield ES, Sandkuijl L, Surrey S, Fortina P (1997) Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. Eur J Hum Genet 5:83–88.
Gillespie PG, Corey DP (1997) Myosin and adaptation by hair cells. Neuron 19:955–958.
Gillespie PG, Hasson T, Garcia JA, Corey DP (1996) Multiple myosin isozymes and hair-cell function. Cold Spring Harb Symp Quant Biol 61:309–318.
Gleeson MJ (1984) Alport’s syndrome: audiological manifestations and implications. J Laryngol Otol 98:449–465.
Goodenough DA, Goliger JA, Paul DL (1996) Connexins, connexons, and intercellular communication. Annu Rev Biochem 65:475–502.
Goodman RM, Lewithal I, Solomon A, Klein D (1982) Upper limb involvement in the Klein-Waardenburg syndrome. Am J Med Genet 11:425–433.
Gorlin RJ, Toriello HV, Cohen MM (1995) Hereditary hearing loss and its syndromes. New York: Oxford University Press.
Goulding MD, Chalepakis G, Deutsch U, Erselius JR, Gruss P (1991) Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. Embo J 10:1135–1147.
Greenberg F, Elder FF, Haffner P, Northrup H, Ledbetter DH (1988) Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet 43:605–611.
Greinwald JH, Jr, Scott DA, Marietta JR, Carmi R, Manaligod J, Ramesh A, Zbar RI, Kraft ML, Elbedour K, Yairi Y, Musy M, Skvorak AB, Van Camp G, Srisailapathy CR, Lovett M, Morton CC, Sheffield VC, Smith RJ (1997) Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. Genome Res 7:879–886.
Greinwald JH, Jr, Wayne S, Chen AH, Scott DA, Zbar RI, Kraft ML, Prasad S, Ramesh A, Coucke P, Srisailapathy CR, Lovett M, Van Camp G, Smith RJ (1998) Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31. Am J Med Genet 78:107–113.
Grifa A, Wagner CA, D’Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P (1999) Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 23:16–18.
Griffith AJ, Arts A, Downs C, Innis JW, Shepard NT, Sheldon S, Gebarski SS (1996) Familial large vestibular aqueduct syndrome. Laryngoscope 106:960–965.
Griffith AJ, Chowdhry AA, Kurima K, Hood LJ, Keats BJ, Berlin CI, Morell RJ, Friedman TB (2000a) Autosomal recessive nonsyndromic neuroscnsory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (Connexin 26) genotype M34T/167delT. Am J Hum Genet 67:745–749.
Griffith AJ, Gebarski SS, Shepard NT, Kileny PR (2000b) Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. Arch Otolaryngol Head Neck Surg 126:891–894.
Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML (1998) Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet 62:816–823.
Griffith AJ, Telian SA, Downs C, Gorski JL, Gebarski SS, Lalwani AK, Sheldon S (1998) Familial Mondini dysplasia. Laryngoscope 108:1368–1373.
Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, Petit C (1994b) A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet 3:989–993.
Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C (1994a) A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 6:24–28.
Hadorn E (1961) Developmental Genetics and Lethal Factors. New York: Barnes and Noble.
Hafner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM (2000) A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. Am J Hum Genet 66:1437–1442.
Hasson T (1997) Unconventional myosins, the basis for deafness in mouse and man. Am J Hum Genet 61:801–805.
Hasson T, Gillespie PG, Garcia JA, MacDonald RB, Zhao Y, Yee AG, Mooseker MS, Corey DP (1997) Unconventional myosins in inner-ear sensory epithelia. J Cell Biol 137:1287–1307.
Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS (1995) Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc Natl Acad Sci USA 92:9815–9819.
Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF (1993) Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 5:31–34.
Hemesath TJ, Steingrimsson E, McGill G, Hansen MJ, Vaught J, Hodgkinson CA, Arnheiter H, Copeland NG, Jenkins NA, Fisher DE (1994) Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev 8:2770–2780.
Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, et al. (1995) The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase IITFIIH. Cell 82:555–564.
Herbarth B, Pingault V, Bondurand N, Kuhlbrodt K, Hermans-Borgmeyer I, Puliti A, Lemort N, Goossens M, Wegner M (1998) Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci USA 95:5161–5165.
Hernandez-Orozco F, Courtney GT (1964) Genetic aspects of clinical otosclerosis. Ann Otol Rhinol Laryngol 73:632–644.
Herrmann J, France TD, Spranger JW, Opitz JM, Wiffler C (1975) The Stickler syndrome (hereditary arthroophthalmopathy). Birth Defects Orig Artic Ser 11:76–103.
Hinnant JT (2000) Adaptation to deafness in a Balinese community. In: Berlin CI, Keats BJB (eds) Genetics and Hearing Loss. San Diego: Singular Publishing Group, pp. 111–124.
Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waarden-burg syndrome). Nat Genet 12:445–447.
Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y, Monaco AP, Robinson D, Malcolm S, Pembrey ME, Brunner HG, et al. (1994) X-linked mixed deafness (DFN3): Cloning and characterization of the critical region allows the identification of novel microdeletions. Hum Mol Genet 3:1151–1154.
Hughes AE, Newton VE, Liu XZ, Read AP (1994) A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nat Genet 7:509–512.
Ikonen E, Baumann M, Gron K, Syvanen AC, Enomaa N, Halila R, Aula P, Peltonen L (1991) Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. Embo J 10:51–58.
Illum P, Kiaer HW, Hvidberg-Hansen J, Sondergaard G (1972) Fifteen cases of Pendred’s syndrome. Congenital deafness and sporadic goiter. Arch Otolaryngol 96:297–304.
Ionasescu VV, Searby C, Greenberg SA (1996) Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: De novo dominant point mutation of the PMP22 gene. J Med Genet 33:1048–1049.
Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C (1991) Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. Am J Hum Genet 48:1075–1083.
Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Niikawa N (1989) Waardenburg syndrome type I in a child with de novo inversion (2) (q35q37.3). Am J Med Genet 33:505–507.
Jaber L, Halpern GJ, Shohat M (1998) The impact of consanguinity worldwide. Community Genetics 1:12–17.
Jacenko O, Olsen BR (1995) Transgenic mouse models in studies of skeletal disorders. J Rheumatol Suppl 43:39–41.
Jackler RK, De La Cruz A (1989) The large vestibular aqueduct syndrome. Laryngoscope 99:1238–1242; discussion 1242–1233.
Jackler RK, Luxford WM, Brackmann DE, Monsell EM (1988) Endolymphatic sac surgery in congenital malformations of the inner ear. Laryngoscope 98:698–704.
Jacobson J, Jacobson C, Gibson W (1990) Hearing loss in Stickler’s syndrome: A family case study. J Am Acad Audiol 1:37–40.
Jain PK, Fukushima K, Deshmukh D, Ramesh A, Thomas E, Lalwani AK, Kumar S, Plopis B, Skarka H, Srisailapathy CR, et al. (1995) A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus. Hum Mol Genet 4:2391–2394.
Jain PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D, Verma IC, Smith RJ, Wilcox ER (1998) A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. Genomics 50:290–292.
Jeraj K, Kim Y, Vernier RL, Fish AJ, Michael AF (1983) Absence of Goodpasture’s antigen in male patients with familial nephritis. Am J Kidney Dis 2:626–629.
Jin H, May M, Tranebjaerg L, Kendall E, Fontan G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D (1996) A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 14:177–180.
Johnsen T, Larsen C, Friis J, Hougaard-Jensen F (1987) Pendred’s syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients. J Laryngol Otol 101:1187–1192.
Johnson K, Cook S, Erway L, Matthews A, Sanford L, Paradies N, Friedman R (1998) A mouse model of branchio-oto-renal syndrome. In: The Molecular Biology of Hearing and Deafness. Bethesda:, p. 70.
Kaartinen V, Mononen I, Voncken JW, Noronkoski T, Gonzalez-Gomez I, Heisterkamp N, Groffen J (1996) A mouse model for the human lysosomal disease aspartylglycosaminuria. Nat Med 2:1375–1378.
Kabakkaya Y, Bakan E, Yigitoglu MR, Gokce G, Dogan M (1993) Pendred’s syndrome. Ann Otol Rhinol Laryngol 102:285–288.
Kalluri R, Gattone VH, 2nd, Hudson BG (1998) Identification and localization of type IV collagen chains in the inner ear cochlea. Connect Tissue Res 37:143–150.
Kanaan MN, Shahen H, Morrow J, Sobe T, King M-C, Avraham KB, Lynch ED (1999) Genetic analysis of hearing loss in Palestinian kindreds. Am J Hum Genet 65:A303.
Kelley PM, Abe S, Askew JW, Smith SD, Usami S, Kimberling WJ (1999) Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: Molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. Genomics 62:172–176.
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80–83.
Khetarpal U (1993) Autosomal dominant sensorineural hearing loss. Further temporal bone findings. Arch Otolaryngol Head Neck Surg 119:106–108.
Khetarpal U, Schuknecht HF, Gacek RR, Holmes LB (1991) Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds. Arch Otolaryngol Head Neck Surg 117:1032–1042.
Kikuchi T, Kimura RS, Paul DL, Adams JC (1995) Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis. Anat Embryol (Berl) 191:101–118.
Kim HJ, Noben-Trauth K, Morell RJ (1998) Tectorin-beta (Tectb) maps to mouse chromosome 19. Genomics 53:419–420.
Kimberling WJ, Moller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, Reardon W, Weston MD, Kenyon JB, Grunkemeyer JA, et al. (1992) Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 14:988–994.
Kleinjan DJ, van Heyningen V (1998) Position effect in human genetic disease. Hum Mol Genet 7:1611–1618.
Kleyn PW, Fan W, Kovats SG, Lee JJ, Pulido JC, Wu Y, Berkemeier LR, Misumi DJ, Holmgren L, Charlat O, Woolf EA, Tayber O, Brody T, Shu P, Hawkins F, Kennedy B, Baldini L, Ebeling C, Alperin GD, Deeds J, Lakey ND, Culpepper J, Chen H, Glucksmann-Kuis MA, Moore KJ, et al. (1996) Identification and characterization of the mouse obesity gene tubby: A member of a novel gene family. Cell 85:281–290.
Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G (1999) Human deafness dystonia syndrome is a mitochondrial disease. Proc Natl Acad Sci USA 96:2141–2146.
Konigsmark BM, Gorlin RJ (1976) Genetic and Metabolic Deafness. Philadelphia: W. B. Saunders.
Konigsmark BW (1969) Hereditary deafness in man. N Engl J Med 281:774–778.
Kovach MJ, Lin J-P, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE (1999) A unique point mutation in the PMP22 gene is associated with deafness, Charcot-Marie-Tooth and Anticipation.
Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 96:437–446.
Kumar NM, Gilula NB (1996) The gap junction communication channel. Cell 84:381–388.
Kumar S, Deffenbacher K, Marres HA, Cremers CW, Kimberling WJ (2000) Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: Clinical and genetic implications. Am J Hum Genet 66:1715–1720.
Kusafuka T, Wang Y, Puri P (1996) Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung’s disease. Hum Mol Genet 5:347–349.
Lalwani AK, Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, San Agustin T, Skarka H, Wilcox ER (1994) A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am J Hum Genet 55:685–694.
Lalwani AK, Jackler RK, Sweetow RW, Lynch ED, Raventos H, Morrow J, King MC, Leon PE (1998) Further characterization of the DFNA1 audiovestibular phenotype. Arch Otolaryngol Head Neck Surg 124:699–702.
Lalwani AK, Linthicum FH, Wilcox ER, Moore JK, Walters FC, San Agustin TB, Mislinski J, Miller MR, Sinninger Y, Attaie A, Luxford WM (1997) A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. Audiol Neurootol 2:139–154.
Lalwani AK, Luxford WM, Mhatre AN, Attaie A, Wilcox ER, Castelein CM (1999) A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration. Am J Hum Genet 64:318–323.
Lander ES, Botstein D (1987) Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science 236:1567–1570.
Larsson A (1960) Otosclerosis: A genetic and clinical study. Acta Otolaryngol (Stockh) 154(suppl):1–86.
Lautermann J, ten Cate WJ, Altenhoff P, Grummer R, Traub O, Frank H, Jahnke K, Winterhager E (1998) Expression of the gap-junction connexins 26 and 30 in the rat cochlea. Cell Tissue Res 294:415–420.
Leal SM, Apaydin F, Barnwell C, Iber M, Kandogan T, Pfister M, Braendle U, Cura O, Schwalb M, Zenner HP, Vitale E (1998) A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9. Eur J Hum Genet 6:341–344.
Lemmink HH, Mochizuki T, van den Heuvel LP, Schroder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ (1994) Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 3:1269–1273.
Lemmink HH, Schroder CH, Monnens LA, Smeets HJ (1997) The clinical spectrum of type IV collagen mutations. Hum Mutat 9:477–499.
Lench N, Houseman M, Newton V, Van Camp G, Mueller R (1998) Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 351:415.
Leon PE, Bonilla JA, Sanchez JR, Vanegas R, Villalobos M, Torres L, Leon F, Howell AL, Rodriguez JA (1981) Low frequency hereditary deafness in man with childhood onset. Am J Hum Genet 33:209–214.
Leon PE, Raventos H, Lynch E, Morrow J, King MC (1992) The gene for an inherited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci USA 89:5181–5184.
Lesperance MM, Hall JW, 3rd, Bess FH, Fukushima K, Jain PK, Ploplis B, San Agustin TB, Skarka H, Smith RJ, Wills M, et al. (1995) A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Hum Mol Genet 4:1967–1972.
Levenson MJ, Parisier SC, Jacobs M, Edelstein DR (1989) The large vestibular aqueduct syndrome in children. A review of 12 cases and the description of a new clinical entity. Arch Otolaryngol Head Neck Surg 115:54–58.
Levy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D (1997) Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet 6:111–116.
Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER (1998) A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18:215–217.
Li Y, Lacerda DA, Warman ML, Beier DR, Yoshioka H, Ninomiya Y, Oxford JT, Morris NP, Andrikopoulos K, Ramirez F, et al. (1995) A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell 80:423–430.
Liang Y, Wang A, Belyantseva IA, Anderson DW, Probst FJ, Barber TD, Miller W, Touchman JW, Jin L, Sullivan SL, Sellers JR, Camper SA, Lloyd RV, Kachar B, Friedman TB, Fridell RA (1999) Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. Genomics 61:243–258.
Liang Y, Wang A, Probst FJ, Arhya IN, Barber TD, Chen KS, Deshmukh D, Dolan DF, Hinnant JT, Carter LE, Jain PK, Lalwani AK, Li XC, Lupski JR, Moeljopawiro S, Morell R, Negrini C, Wilcox ER, Winata S, Camper SA, Friedman TB (1998) Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. Am J Hum Genet 62:904–915.
Liu X, Ondek B, Williams DS (1998) Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. Nat Genet 19:117–118.
Liu X, Xu L, Zhang S, Xu Y (1994) Epidemiological and genetic studies of congenital profound deafness in the general population of Sichuan, China. Am J Med Genet 53:192–195.
Liu XZ, Hope C, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S, Brown SD (1998) Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am J Hum Genet 63:909–912.
Liu XZ, Newton VE, Read AP (1995) Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria. Am J Med Genet 55:95–100.
Liu XZ, Newton VE, Steel KP, Brown SD (1997a) Identification of a new mutation of the myosin VII head region in Usher syndrome type 1. Hum Mutat 10:168–170.
Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD (1997b) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 16:188–190.
Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD (1997c) Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 17:268–269.
Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE (2000) Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet 9:63–67.
Lubianca Neto JF, Lu L, Eavey RD, Flores MA, Caldera RM, Sangwatanaroj S, Schott JJ, McDonough B, Santos JI, Seidman CE, Seidman JG (1998) The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. Am J Hum Genet 62:1107–1112.
Lucarini JW, Liberfarb RM, Eavey RD (1987) Otolaryngological manifestations of the Stickler syndrome. Int J Pediatr Otorhinolaryngol 14:215–222.
Lui VC, Kong RY, Nicholls J, Cheung AN, Cheah KS (1995) The mRNAs for the three chains of human collagen type XI are widely distributed but not necessarily co-expressed: Implications for homotrimeric, heterotrimeric and heterotypic collagen molecules. Biochem J 311:511–516.
Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, et al. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219–232.
Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 278:1315–1318.
Lyons MF, Searle AG (1989) Genetic Variants and Strains of the Laboratory Mouse. Oxford: Oxford University Press.
Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS (1999) A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families. Hum Mol Genet 8:1237–1243.
Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR (1998) Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 62:77–85.
Manolis EN, Yandavi N, Nadol JB, Jr, Eavey RD, McKenna M, Rosenbaum S, Khetarpal U, Halpin C, Merchant SN, Duyk GM, MacRae C, Seidman CE, Seidman JG (1996) A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum Mol Genet 5:1047–1050.
Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE (1993) Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 46:486–491.
Marcus RE (1968) Vestibular function and additional findings in Waardenburg’s syndrome. Acta Otolaryngol (Stockh):Suppl 229:221–230.
Mariyama M, Zheng K, Yang-Feng TL, Reeders ST (1992) Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35–q37. Genomics 13:809–813.
Marshall D (1958) Ectodermal dysplasia: Report of kindred with ocular abnormalities and hearing defect. Amer J Ophthalmol 45:143–156.
Martin PE, S LC, Casalotti SO, Forge A, Evans WH (1999) Properties of connexin 26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. Hum Mol Genet 8:2369–2376.
Maw MA, Allen-Powell DR, Goodey RJ, Stewart IA, Nancarrow DJ, Hayward NK, Gardner RJ (1995) The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. Am J Hum Genet 57:629–635.
Mayne R, Brewton RG, Mayne PM, Baker JR (1993) Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous. J Biol Chem 268:9381–9386.
Mburu P, Liu XZ, Walsh J, Saw D, Jr, Cope MJ, Gibson F, Kendrick-Jones J, Steel KP, Brown SD (1997) Mutation analysis of the mouse myosin VIIA deafness gene. Genes Funct 1:191–203.
McEvilly RJ, Erkman L, Luo L, Sawchenko PE, Ryan AF, Rosenfeld MG (1996) Requirement for Brn-3.0 in differentiation and survival of sensory and motor neurons. Nature 384:574–577.
McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ (1999) Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet 23:413–419.
McKenna MJ, Kristiansen AG, Bartley ML, Rogus JJ, Haines JL (1998) Association of COL1A1 and otosclerosis: Evidence for a shared genetic etiology with mild osteogenesis imperfecta. Am J Otol 19:604–610.
McKenna MJ, Kristiansen AG, Haines J (1996) Polymerase chain reaction amplification of a measles virus sequence from human temporal bone sections with active otosclerosis. Am J Otol 17:827–830.
McKusick VA (1998) Mendelian Inheritance in Man, 10th edition. Baltimore: The Johns Hopkins University Press.
Mermall V, Post PL, Mooseker MS (1998) Unconventional myosins in cell movement, membrane traffic, and signal transduction. Science 279:527–533.
Miller GW, Joseph DJ, Cozad RL, McCabe BF (1970) Alport’s syndrome. Arch Otolaryngol 92:419–432.
Minowa O, Ikeda K, Sugitani Y, Oshima T, Nakai S, Katori Y, Suzuki M, Furukawa M, Kawase T, Zheng Y, Ogura M, Asada Y, Watanabe K, Yamanaka H, Gotoh S, Nishi-Takeshima M, Sugimoto T, Kikuchi T, Takasaka T, Noda T (1999) Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. Science 285:1408–1411.
Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schroder CH, Smeets HJ, et al. (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8:77–81.
Mohr J, Mageroy K (1960) Sex-linked deafness of a possible new type. Acta Genet Stat Med (Basel) 10:54–62.
Morell R, Friedman TB, Asher JH, Jr, Robbins LG (1997) The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). J Med Genet 34:447–452.
Morell R, Friedman TB, Moeljopawiro S, Hartono, Soewito, Asher JH, Jr (1992) A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. Hum Mol Genet 1:243–247.
Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH, Jr (1997) Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet 6:659–664.
Morell RJ, Friderici KH, Wei S, Elfenbein JL, Friedman TB, Fisher RA (2000) A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25. Genomics 63:1–6.
Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Camp GV, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB, Agustin TS, Dumon J (1998) Mutations in the connexin 26 Gene (GJB2) among Ashkenazi Jews with non-syndromic recessive deafness. N Engl J Med 339:1500–1505.
Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Gimenez J, Reis A, Varon-Mateeva R, Macek M, Jr, Kalaydjieva L, et al. (1994) The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nat Genet 7:169–175.
Morrell CH, Gordon-Salant S, Pearson JD, Brant LJ, Fozard JL (1996) Age-and gender-specific reference ranges for hearing level and longitudinal changes in hearing level. J Acoust Soc Am 100:1949–1967.
Morrison AW (1967) Genetic factors in otosclerosis. Ann R Coll Surg Engl 41:202–237.
Morton NE (1991) Genetic epidemiology of hearing impairment. Ann NY Acad Sci 630:16–31.
Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P (1993) Putative X-linked adrenoleukodystrophy gene shares un-expected homology with ABC transporters. Nature 361:726–730.
Moynihan L, Houseman M, Newton V, Mueller R, Lench N (1999) DFNB20: A novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter. Eur J Hum Genet 7:243–246.
Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR (1997) Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773–779.
Mustapha M, Chardenoux S, Nieder A, Salem N, Weissenbach J, el-Zir E, Loiselet J, Petit C (1998a) A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34–q36. Eur J Hum Genet 6:245–250.
Mustapha M, Salem N, Weil D, el-Zir E, Loiselet J, Petit C (1998b) Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness. Eur J Hum Genet 6:548–551.
Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C (1999) An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 8:409–412.
Nadol JB, Jr (1993) Hearing loss. N Engl J Med 329:1092–1102.
Nakashima S, Sando I, Takahashi H, Hashida Y (1992) Temporal bone histopathologic findings of Waardenburg’s syndrome: A case report. Laryngoscope 102: 563–567.
Nance WE, Setleff R, McLeod A, Sweeney A, Cooper C, McConnell F (1971) X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser 07:64–69.
Nance WE, Sweeney A (1975) Symposium on sensorineural hearing loss in children: Early detection and intervention. Genetic factors in deafness of early life. Otolaryngol Clin North Am 8:19–48.
Newton V (1990) Hearing loss and Waardenburg’s syndrome: Implications for genetic counselling. J Laryngol Otol 104:97–103.
Newton VE (1989) Waardenburg’s syndrome: A comparison of biometric indices used to diagnose lateral displacement of the inner canthi. Scand Audiol 18: 221–223.
Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 15:186–189.
Niedermeyer HP, Arnold W (1995) Otosclerosis: A measles virus associated inflammatory disease. Acta Otolaryngol (Stockh) 115:300–303.
Niyibizi C, Eyre DR (1989) Identification of the cartilage alpha 1(XI) chain in type V collagen from bovine bone. FEBS Lett 242:314–318.
Noben-Trauth K, Naggert JK, North MA, Nishina PM (1996) A candidate gene for the mouse mutation tubby. Nature 380:534–538.
Nurnberg P, Tinschert S, Mrug M, Hampe J, Muller CR, Fuhrmann E, Braun HS, Reis A (1997) The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. Am J Hum Genet 61:918–923.
O’Malley BW, Jr, Li D, Turner DS (1995) Hearing loss and cochlear abnormalities in the congenital hypothyroid (hyt/hyt) mouse. Hear Res 88:181–189.
O’Neill ME, Marietta J, Nishimura D, Wayne S, Van Camp G, Van Laer L, Negrini C, Wilcox ER, Chen A, Fukushima K, Ni L, Sheffield VC, Smith RJ (1996) A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. Hum Mol Genet 5:853–856.
O’Quinn JR, Hennekam RC, Jorde LB, Bamshad M (1998) Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. Am J Hum Genet 62:130–135.
Ohshima T, Murray GJ, Swaim WD, Longenecker G, Quirk JM, Cardarelli CO, Sugimoto Y, Pastan I, Gottesman MM, Brady RO, Kulkarni AB (1997) Alpha-Galactosidase A deficient mice: A model of Fabry disease. Proc Natl Acad Sci USA 94:2540–2544.
Ormerod FC (1960) The pathology of congenital deafness. J Laryngol Otol 74:919–950.
Oxford JT, Doege KJ, Morris NP (1995) Alternative exon splicing within the aminoterminal nontriple-helical domain of the rat pro-alpha 1(XI) collagen chain generates multiple forms of the mRNA transcript which exhibit tissue-dependent variation. J Biol Chem 270:9478–9485.
Pandya A, Xia XJ, Landa BL, Arnos KS, Israel J, Lloyd J, James AL, Diehl SR, Blanton SH, Nance WE (1996) Phenotypic variation in Waardenburg syndrome: Mutational heterogeneity, modifier genes or polygenic background? Hum Mol Genet 5:497–502.
Partington MW (1964) Waardenburg’s syndrome and heterochromia iridium in a deaf school population. Can Med Ass J 90:1008–10017.
Pfister MH, Apaydin F, Turan O, Bereketoglu M, Bilgen V, Braendle U, Kose S, Zenner HP, Lalwani AK (1999) Clinical evidence for dystrophin dysfunction as a cause of hearing loss in locus DFN4. Laryngoscope 109:730–735.
Pfister MHF, Apaydin F, Turan O, Bereketoglu M, Bylgen V, Braendle U, Zenner HP, Lalwani AK (1998) A second family with nonsyndromic sensorineural hearing loss linked to xp21.2: Refinement of the DFN4 locus within DMD. Genomics 53:377–382.
Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, Kendall-Taylor P, Graham JM, Cadge BC, Stephens SG, Pembrey ME, Reardon W (1998) Radiological malformations of the ear in Pendred syndrome. Clin Radiol 53:268–273.
Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L (1991) X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 33:326–330.
Pieke-Dahl S, Kelly PM, Astuto LM, Weston MD, Kenyon JB, Kimberling WJ (1998) Localization of USH2B to 5q14.3–q21.3. In: The Molecular Biology of Hearing and Deafness. Publisher Bethesda, MD, p. 88.
Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M (1998) SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171–173.
Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B (1995) Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. Nat Genet 11:96–98.
Popkin JS, Polomeno RC (1974) Stickler’s syndrome (hereditary progressive arthroophthalmopathy). Can Med Assoc J 111:1071–1076.
Prasher D (1998) New strategies for prevention and treatment of noise-induced hearing loss. Lanct 352:1240–1242.
Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Touchman JW, Lyons RH, Noben-Trauth K, Friedman TB, Camper SA (1998) Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science 280:1444–1447.
Prockop DJ, Kivirikko KI (1995) Collagens: Molecular biology, diseases, and potentials for therapy. Annu Rev Biochem 64:403–434.
Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung’s disease. Cell 79:1257–1266.
Qumsiyeh MB (1992) EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2–q21.3. Clin Genet 42:101.
Rarey KE, Davis LE (1984) Inner ear anomalies in Waardenburg’s syndrome associated with Hirschsprung’s disease. Int J Pediatr Otorhinolaryngol 8:181–189.
Raynor EM, Mulroy MJ (1997) Sensorineural hearing loss in the mdx mouse: A model of Duchenne muscular dystrophy. Laryngoscope 107:1053–1056.
Read AP, Newton VE (1997) Waardenburg syndrome. J Med Genet 34:656–665.
Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, Britton KE, Grossman A, Trembath R (1997) Pendred syndrome-100 years of under-ascertainment? Quart J Med 90:443–447.
Reardon W, Middleton-Price HR, Malcolm S, Phelps P, Bellman S, Luxon L, Martin JA, Bumby A, Pembrey ME (1992) Clinical and genetic heterogeneity in X-linked deafness. Br J Audiol 26:109–114.
Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 8:98–103.
Riazuddin S, Castelein CM, Friedman TB, Lalwani AK, Liburd N, Naz S, Smith TN, Riazuddin S, Wilcox ER (1999) A novel nonsyndromic form of deafness maps to 4q28 and demonstrates incomplete penetrance. Am J Hum Genet 65:A101.
Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ (1998) Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 103:393–399.
Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP (1996) A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet 5:1339–1343.
Rieger R, Michaelis A, Green MM (1991) Glossary of Genetics, 5th edition Berlin: Springer-Verlag.
Rintelmann W (1976) Auditory manifestations of Alport’s disease syndrome. Trans Am Acad Ophthalmol Otolaryngol 82:375–387.
Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S (1995) Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 9:152–159.
Rizvi SS, Holmes RA (1980) Hearing loss from hemodialysis. Arch Otolaryngol 106:751–756.
Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR, Morton CC (1994) Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics 23:42–50.
Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB, Jr, Miyamoto RT, Linthicum FH, Jr, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG (1998) Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet 20:299–303.
Rubsamen R, Lippe WR (1998) The Development of cochlear function. In: Rubel EW, Popper AN, Fay RR (eds) Development of the Auditory System. New York: Springer-Verlag, pp. 193–270.
Ruppert ES, Buerk E, Pfordresher MF (1970) Hereditary hearing loss with saddlenose and myopia. Arch Otolaryngol 92:95–98.
Sakagami M, Fukazawa K, Matsunaga T, Fujita H, Mori N, Takumi T, Ohkubo H, Nakanishi S (1991) Cellular localization of rat Isk protein in the stria vascularis by immunohistochemical observation. Hear Res 56:168–172.
Salam AA, Hafner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM (2000) A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. Am J Hum Genet 66:1984–1988.
Scheibe A (1892) A case of deaf-mutism, with auditory atrophy and anomalies of development in the membranous labyrinth of both ears. Arch Otolaryngol 85:269–277.
Schuknecht HF (1980) Mondini dysplasia: A clinical and pathological study. Ann Otol Rhinol Laryngol Suppl 89:1–23.
Schuknecht HF. (1993). Pathology of the Ear, 2nd edition. Malvern, PA: Lea and Febiger.
Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y (1997) KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet 17:267–268.
Scott DA, Carmi R, Elbedour K, Duyk GM, Stone EM, Sheffield VC (1995) Non-syndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet 57:965–968.
Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC (1996) An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am J Hum Genet 59:385–391.
Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC (1998b) Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 11:387–394.
Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJ (1998a) Connexin mutations and hearing loss. Nature 391:32.
Scott DA, Wang R, Kerman TM, Sheffield VC, Karniski LP (1998). The Pendred syndrome gene product functions as an iodine, chloride transporter. In: The Molecular Biology of Hearing and Deafness [publisher], Bethesda, MD: p. 63.
Shah KN, Dalal SJ, Desai MP, Sheth PN, Joshi NC, Ambani LM (1981) White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome. J Pediatr 99:432–435.
Shea JJ, Jr (1998) A personal history of stapedectomy. Am J Otol 19:S2–12.
Sheffer R, Zlotogora J (1992) Autosomal dominant inheritance of Klein-Waardenburg syndrome. Am J Med Genet 42:320–322.
Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser M (1996) Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 12:424–426.
Sheffield VC, Stone EM, Carmi R (1998) Use of isolated inbred human populations for identification of disease genes. Trends Genet 14:391–396.
Shiloh Y, Litvak G, Ziv Y, Lehner T, Sandkuyl L, Hildesheimer M, Buchris V, Cremers FP, Szabo P, White BN, et al. (1990) Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3–q27.I. Am J Hum Genet 47:20–27.
Shinkawa H, Nadol JB, Jr (1986) Histopathology of the inner ear in Usher’s syndrome as observed by light and electron microscopy. Ann Otol Rhinol Laryngol 95:313–318.
Shnerson A, Lenoir M, van de Water TR, Pujol R (1983) The pattern of sensorineural degeneration in the cochlea of the deaf shaker-1 mouse: Ultrastructural observations. Brain Res 285:305–315.
Shpargel K, Griffith A (2000) Temporal and spatial expression analysis of the Col11a1 gene in the mouse inner ear. Association for Research in Otolaryngology Abstracts 23:32.
Shrivastava A, Radziejewski C, Campbell E, Kovac L, McGlynn M, Ryan TE, Davis S, Goldfarb MP, Glass DJ, Lemke G, Yancopoulos GD (1997) An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors. Mol Cell 1:25–34.
Sillence DO, Ritchie HE, Selby PB (1987) Animal model: Skeletal anomalies in mice with cleidocranial dysplasia. Am J Med Genet 27:75–85.
Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH (1998) Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr 132:368–371.
Skvorak AB, Weng Z, Yee AJ, Robertson NG, Morton CC (1999) Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness (in press). Hum Mol Genet.
Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller CG, Pelias MZ, Tranebjaerg L (1994) Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 50:32–38.
Smith RJ, Steel KP, Barkway C, Soucek S, Michaels L (1992) A histologic study of nonmorphogenetic forms of hereditary hearing impairment. Arch Otolaryngol Head Neck Surg 118:1085–1094.
Sommer A, Young-Wee T, Frye T (1983) Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet 15:71–77.
Southard-Smith EM, Kos L, Pavan WJ (1998) Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 18:60–64.
Spallone A (1987) Stickler’s syndrome: A study of 12 families. Br J Ophthalmol 71:504–509.
Spicer SS, Schulte BA (1998) Evidence for a medial K+ recycling pathway from inner hair cells. Hear Res 118:1–12.
Spicer SS, Schulte BA (1996) The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency. Hear Res 100:80–100.
Spranger J, Winterpacht A, Zabel B (1994) The type II collagenopathies: A spectrum of chondrodysplasias. Eur J Pediatr 153:56–65.
Steel KP, Barkway C, Bock GR (1987) Strial dysfunction in mice with cochleosaccular abnormalities. Hear Res 27:11–26.
Steel KP, Bock GR (1983) Hereditary inner-ear abnormalities in animals. Relationships with human abnormalities. Arch Otolaryngol 109:22–29.
Steel KP, Smith RJ (1992) Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. Nat Genet 2:75–79.
Steingrimsson E, Moore KJ, Lamoreux ML, Ferre-D’Amare AR, Burley SK, Zimring DC, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG, et al. (1994) Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet 8:256–263.
Stickler GB, Pugh DG (1967) Hereditary progressive arthro-ophthalmopathy. II. Additional observation on vertebral anomalies, a hearing defect and a report of a similar case. Mayo Clin Proc 42:495–500.
Szymko Y, Matroianni MA, Shotland L, Davis J, Francomano C, Ondrey F, Griffith A (2000) Auditory phenotype of Stickler syndrome. Association for Research in Otolaryngology Abstracts 23:217.
Tachibana M, Perez-Jurado LA, Nakayama A, Hodgkinson CA, Li X, Schneider M, Miki T, Fex J, Francke U, Arnheiter H (1994) Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum Mol Genet 3:553–557.
Tamagawa Y, Kitamura K, Ishida T, Ishikawa K, Tanaka H, Tsuji S, Nishizawa M (1996) A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum Mol Genet 5:849–852.
Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T (1992) Waardenburg’s syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635–636.
Temple IK (1989) Stickler’s syndrome. J Med Genet 26:119–126.
Thalmann I (1993) Collagen of accessory structures of organ of Corti. Connect Tissue Res 29:191–201.
Thompson EA (1986) Pedigree Analysis in Human Genetics. Baltimore: The Johns Hopkins University Press.
Titus MA (1998) Coming to grips with a multitude of myosins. Trends Cell Biol 8:171–172.
Tomek MS, Brown MR, Mani SR, Ramesh A, Srisailapathy CR, Coucke P, Zbar RI, Bell AM, McGuirt WT, Fukushima K, Willems PJ, Van Camp G, Smith RJ (1998) Localization of a gene for otosclerosis to chromosome 15q25-q26. Hum Mol Genet 7:285–290.
Toynbee J (1861) Pathological and surgical observations on the diseases of the ear. Med Chir Trans 24:190–205.
Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D, et al. (1995) A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 32:257–263.
Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel JL, Sassone-Corsi P, Hanauer A (1996) Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 384:567–570.
Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH (1992) ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne’s syndrome and preferential repair of active genes. Cell 71:939–953.
Tsumaki N, Kimura T, Matsui Y, Nakata K, Ochi T (1996) Separable cis-regulatory elements that contribute to tissue-and site-specific alpha 2(XI) collagen gene expression in the embryonic mouse cartilage. J Cell Biol 134:1573–1582.
Turner N, Mason PJ, Brown R, Fox M, Povey S, Rees A, Pusey CD (1992) Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen. J Clin Invest 89:592–601.
Tyson J, Bellman S, Newton V, Simpson P, Malcolm S, Pembrey ME, Bitner-Glindzicz M (1996) Mapping of DFN2 to Xq22. Hum Mol Genet 5:2055–2060.
Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB (1998) Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279:1950–1954.
van Aarem A, Cremers WR, Benraad-van Rens MJ (1995) Usher syndrome. A temporal bone report. Arch Otolaryngol Head Neck Surg 121:916–921.
Van Camp G, Coucke PJ, Kunst H, Schatteman I, VanVelzen D, Marres H, van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJ, Djelantik B, Cremers CW, Van de Heyning PH, Willems PJ (1997b) Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. Genomics 41:70–74.
Van Camp G, Kunst H, Flothmann K, McGuirt W, Wauters J, Marres H, Verstreken M, Bespalova IN, Burmeister M, Van de Heyning PH, Smith RJ, Willems PJ, Cremers CW, Lesperance MM (1999) A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus. J Med Genet 36:532–536.
van den Wijngaart WS, Huizing EH, Niermeijer MF, Verschuure J, Brocaar MP, Blom W (1985) Follow-up study in a family with dominant progressive hereditary sensorineural hearing impairment. II. Clinical aspects. Audiology 24:336–342.
Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G (1998) Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet 20:194–197.
Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJ, Huizing E, Willems P (1997) Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea. Eur J Hum Genet 5:397–405.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ (1997) A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. Am J Hum Genet 60:1168–1173.
Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G (1998) Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 19:60–62.
Vernon M (1959) Usher’s syndrome-deafness and progressive blindness. Clinical cases, prevention, theory, and literature survey. J Chron Dis 22:133–151.
Veske A, Oehlmann R, Younus F, Mohyuddin A, Muller-Myhsok B, Mehdi SQ, Gal A (1996) Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet 5:165–168.
Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M, et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361:226–233.
Vetter DE, Mann JR, Wangemann P, Liu J, McLaughlin KJ, Lesage F, Marcus DC, Lazdunski M, Heinemann SF, Barhanin J (1996) Inner ear defects induced by null mutation of the isk gene. Neuron 17:1251–1264.
Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH, et al. (1995) Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80:431–437.
Villamar M, del Castillo I, Valle N, Romero L, Moreno F (1999) Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. Am J Hum Genet 64:1238–1241.
Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, Vaneecloo FM, Petit C (1997) BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet 5:242–246.
Vogel W, Gish GD, Alves F, Pawson T (1997) The discoidin domain receptor tyrosine kinases are activated by collagen. Mol Cell 1:13–23.
Waardenburg PJ (1951) A new syndrome combining developmenal anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness. Am J Hum Genet 3:195–253.
Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB (1998) Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 280:1447–1451.
Watanabe A, Takeda K, Ploplis B, Tachibana M (1998) Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat Genet 18:283–286.
Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, et al. (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374:60–61.
Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, Petit C (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 16:191–193.
Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ (1996) Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet 59:1074–1083.
White TW, Deans MR, Kelsell DP, Paul DL (1998) Connexin mutations in deafness. Nature 394:630–631.
Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9:165–172.
Wilson DF, Hodgson RS, Talbot JM (1997) Endolymphatic sac obliteration for large vestibular aqueduct syndrome. Am J Otol 18:101–106; discussion 106–107.
Winata S, Arhya IN, Moeljopawiro S, Hinnant JT, Liang Y, Friedman TB, Asher JH, Jr (1995) Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village. J Med Genet 32:336–343.
Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W
Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ (1998) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 20:370–373.
Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (1999) A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 21:363–369.
Yoo TJ (1984) Etiopathogenesis of otosclerosis: A hypothesis. Ann Otol Rhinol Laryngol 93:28–33.
Yoshioka H, Inoguchi K, Khaleduzzaman M, Ninomiya Y, Andrikopoulos K, Ramirez F (1995) Coding sequence and alternative splicing of the mouse alpha 1(XI) collagen gene (Col11a1). Genomics 28:337–340.
Yoshioka H, Iyama K, Inoguchi K, Khaleduzzaman M, Ninomiya Y, Ramirez F (1995) Developmental pattern of expression of the mouse alpha 1 (XI) collagen gene (Col11a1). Dev Dyn 204:41–47.
Zelante L, Gasparini P, Estivill X, Melchionda S, D’Agruma L, Govea N, Mila M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P (1997) Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1605–1609.
Zhidkova NI, Justice SK, Mayne R (1995) Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains. J Biol Chem 270:9486–9493.
Zlotogora J, Lerer I, Bar-David S, Ergaz Z, Abeliovich D (1995) Homozygosity for Waardenburg syndrome. Am J Hum Genet 56:1173–1178.
Zlotogora J, Sagi M, Schuper A, Leiba H, Merin S (1992) Variability of Stickler syndrome. Am J Med Genet 42:337–339.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2002 Springer-Verlag New York, Inc.
About this chapter
Cite this chapter
Griffith, A.J., Friedman, T.B. (2002). Autosomal and X-Linked Auditory Disorders. In: Keats, B.J.B., Fay, R.R., Popper, A.N. (eds) Genetics of Auditory Disorders. Springer Handbook of Auditory Research, vol 14. Springer, New York, NY. https://doi.org/10.1007/0-387-21853-X_6
Download citation
DOI: https://doi.org/10.1007/0-387-21853-X_6
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-98501-5
Online ISBN: 978-0-387-21853-3
eBook Packages: Springer Book Archive