Skip to main content
SpringerLink
Log in

Genetic Disorders in Lebanon

  • Chapter
  • First Online:
Genetic Disorders Among Arab Populations

  • 1532 Accesses

Abstract

Lebanon is one of the countries in the Arab World that developed services of medical genetics relatively early (Der Kaloustian et al. 1980). In this, it followed the developed countries in focusing attention on the chronically handicapped and on conditions such as congenital malformations, mental retardation, and hereditary metabolic disorders.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Abboud MR, Alexander D, Najjar SS (1985) Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity. J Pediatr 107:537–541

    Article  PubMed  CAS  Google Scholar 

  • Abdelnoor AM, Abdelnoor M, Heneine W, Khauli R, Kobeissy F, Mansur S, Malak R, Sharara H (2001) Major histocompatibility complex class I and II antigen frequencies in selected groups of Lebanese. Transplant Proc 33:2839–2840

    Article  PubMed  CAS  Google Scholar 

  • Abdul-Karim R, Iliya F, Iskandar G (1964) Consecutive hydrocephalus: report of two cases. Obstet Gynecol 24:376–378

    PubMed  CAS  Google Scholar 

  • Abifadel M, Jambart S, Allard D, Rabès J-P, Varret M, Derré A, Chouery E, Salem N, Junien C, Aydénian H, Boileau C (2004) Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method. Clin Genet 65:158–161

    Article  PubMed  CAS  Google Scholar 

  • Adaimy L, Chouery E, Mégarbané H, Mroueh S, Delague V, Nicholas E, Belguith H, de Mazancourt P, Mégarbané A (2007) Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet 81:821–828

    Article  PubMed  CAS  Google Scholar 

  • Afifi AK, Der Kaloustian VM, Mire JJ (1972a) Muscular abnormality in xeroderma pigmentosum. J Neurol Sci 17:435–442

    Article  PubMed  CAS  Google Scholar 

  • Afifi AK, Rebeiz J, Mire J, Andonian SJ, Der Kaloustian VM (1972b) The myopathology of the prune belly syndrome. J Neurol Sci 15:153–166

    Article  PubMed  CAS  Google Scholar 

  • Afifi AK, Najjar SS, Mire-Salman J, Bergman RA (1974) The myopathology of the Kocher– Debré–Sémélaigne syndrome. Electromyography, light and electron-microscopy study. J Neurol Sci 22:445–470

    Article  PubMed  CAS  Google Scholar 

  • Afifi AK, Mire-Salman J, Najjar S (1976) The myopathology of congenital generalized lipodystrophy, light and electron microscopic observation. Johns Hopkins Med J 39(Suppl):61–68

    Google Scholar 

  • Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER (2003) The molecular genetics of Usher syndrome. Clin Genet 63:431–444

    Article  PubMed  CAS  Google Scholar 

  • Akl KF, Khudr GS, Der Kaloustian VM, Najjar SS (1977) The Smith–Lemli–Opitz syndrome. Report of a case with bilateral focal renal dysplasia. Clin Pediatr 16:665–668

    Article  CAS  Google Scholar 

  • Al-Awadi SA, Farag TI, Teebi AS, Naguib K, El-Khalifa MY, Kelani Y, Al-Ansari A, Schimke RN (1985) Primary hypogonadism and partial alopecia in three sibs with mullerian hypoplasia in the affected females. Am J Med Genet 22:619–622

    Article  PubMed  CAS  Google Scholar 

  • Alexander D, Assaf M, Khudr A, Haddad I, Barakat A (1985) Fructose-1, 6-diphosphatase deficiency: diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods. J Inherit Metab Dis 8:174–177

    Article  PubMed  CAS  Google Scholar 

  • Alexander D, Dudin G, Talj F, Bitar F, Deeb M, Khudr A, Abboud M, Der Kaloustian VM (1984) Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition? Am J Hum Genet 36:1001–1014

    PubMed  CAS  Google Scholar 

  • Alexander D, Deeb M, Talj F (1986) Heterozygosity for phosphodiester glycosidase deficiency: a novel human mutation of lysosomal enzyme processing. Hum Genet 73:53–59

    Article  PubMed  CAS  Google Scholar 

  • Almawi WY, Finan RR, Tamim H, Daccache JL, Irani-Hakime N (2004) Differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene among the Lebanese population. Am J Hematol 76:85–87

    Article  PubMed  CAS  Google Scholar 

  • Almawi WY, Wakim-Ghorayeb SF, Arekat MR, Najm P, Keleshian SH, Al-Sayed N, Blanchon B, Samaha HR, Irani-Hakime N (2006) Association of selective HLA class II susceptibility-conferring and protective haplotypes with type 2 diabetes in patients from Bahrain and Lebanon. Clin Vaccine Immunol 13:1296–1298

    Article  PubMed  CAS  Google Scholar 

  • Arayssi TK, Hamdan AR, Touma Z, Shameseddeen W, Hourani HB, Farra CG (2008) TNF polymorphisms in Lebanese patients with Behçet’s disease. Clin Exp Rheumatol 26(4 suppl 50):S130–131

    PubMed  CAS  Google Scholar 

  • Armenian H (1982) Genetic and environmental factors in the aetiology of familial paroxysmal polyserositis. An analysis of 150 cases from Lebanon. Trop Geogr Med 34:183–187

    PubMed  CAS  Google Scholar 

  • Armenian HK, Khachadurian AK (1973) Familial paroxysmal polyserositis. Clinical and laboratory findings in 120 cases. J Med Liban 26:605–614

    PubMed  CAS  Google Scholar 

  • Armenian HK, Uthman SM (1975) Familial paroxysmal polyserositis (FPP). J Med Liban 28:439–442

    Google Scholar 

  • Arnold WP, Merks MAW, Steijlen PM (1995) Variant of odontoonychodermal dysplasia? Am J Med Genet 59:242–244

    Article  PubMed  CAS  Google Scholar 

  • Ayoub N, Tomb R, Charlesworth A, Meneguzzi G (2005) Épidermolyse bulleuse jonctionnelle. Identification d’une nouvelle mutation dans 2 familles libanaises. Ann Dermatol Venereol 132:550–553

    Article  PubMed  CAS  Google Scholar 

  • Baghdassarian SA, Tabbara KF (1975) Childhood blindness in Lebanon. Am J Ophthalmol 79:827–830

    PubMed  CAS  Google Scholar 

  • Baraka A, Bikhazi G, Abu-Haidar G (1974) Succinylcholine block in a patient with atypical serum cholinesterase. Middle East J Anaesthesiol 4:53–59

    Google Scholar 

  • Barakat AY, Butler MG (1987) Renal and urinary tract abnormalities associated with chromosome aberrations. Int J Pediatr Nephrol 8:215–226

    PubMed  CAS  Google Scholar 

  • Barakat AY, Francis YK, Mufarrij AA (1986) Hypokalemic alkalosis, hyperreninemia, aldosteronism, normal blood pressure and normal juxtaglomerular apparatus – a new syndrome of renal alkalosis. Int J Pediatr Nephrol 7:99–100

    PubMed  CAS  Google Scholar 

  • Barbari A, Stephan A, Masri M, Karam A, Aoun S, El Nahas J, Bou Khalil J (2003) Consanguinity-associated kidney disease in Lebanon: an epidemiological study. Mol Immunol 39:1109–1114

    Article  PubMed  CAS  Google Scholar 

  • Beighton P (1978) Inherited disorders of the skeleton. Churchill-Livingstone, Edinburgh, pp 50–52

    Google Scholar 

  • Beighton P (1990) Dyggve–Melchior–Clausen syndrome. J Med Genet 27:512–515

    Article  PubMed  CAS  Google Scholar 

  • Ben Ezra D, Abulafia H, Maftzir G, Yatziv S, Paez J, Zelikovitch A (1982) Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings. Birth Defects Orig Artic Ser 18:571–575

    CAS  Google Scholar 

  • Beutler E, Kuhl W (1990) The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. Am J Hum Genet 47:1008–1012

    PubMed  CAS  Google Scholar 

  • Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani B, Traboulsi EI (2006) Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. Invest Ophthal Vis Sci 47:1274–1280

    Article  PubMed  Google Scholar 

  • Bitar E (1966) La goutte au Liban. J Med Liban 19:235–241

    PubMed  CAS  Google Scholar 

  • Bitar E, Ghayad E, Ghoussoub K, Sinno W, Chams H, Khoury A, Baloglou P, Kallab K, Halaby C, Chemaly R et al (1986) Behçet’s disease: A propos of 32 cases. Rev Rhum Mal Osteoartic 53:621–624

    PubMed  CAS  Google Scholar 

  • Bitar JG (1970) Unconjugated hyperbilirubinemia (Gilbert’s syndrome). J Med Liban 23:485–489

    PubMed  CAS  Google Scholar 

  • Bitar JG, Idriss H (1969) Cystic fibrosis of the pancreas. J Med Liban 22:181–185

    PubMed  CAS  Google Scholar 

  • Bitar JG, Lightwood R (1967) The Wiskott-Aldrich syndrome associated with mucoviscidosis in the same patient. J Pediatr 71:123–126

    Article  PubMed  CAS  Google Scholar 

  • Bitar JG, Takla R (1971) Hepatic glycogenoses. J Med Liban 24:483–490

    PubMed  CAS  Google Scholar 

  • Bitar J, Khalifé R, Matta C, Najjar S, Tawil H (1969) Ataxia telangiectasia. J Med Liban 22:187–190

    Google Scholar 

  • Bitar JG, Salem AA, Nasr AT (1970) Celiac disease in the Middle East. J Med Liban 23:423–444

    PubMed  CAS  Google Scholar 

  • Blibech R, Mrad H, Kastally R, Brissart MA, Potron G, Arous N, Riou J, Blouquit Y, Bardakdjian J, Lacombe C, Rosa J, Galacteros F (1986) Hemoglobin Beirut (alpha 2 beta 2 (126) val-to-ala) in an Algerian family. Hemoglobin 10:651–654

    Article  PubMed  CAS  Google Scholar 

  • Bonafede RP, Beighton P (1978) The Dyggve–Melchior–Clausen syndrome in adult siblings. Clin Genet 14:24–30

    Article  PubMed  CAS  Google Scholar 

  • Boustany RM, Tanaka A, Nishimoto J, Suzuki K (1991) Genetic cause of a juvenile form of Tay–Sachs disease in a Lebanese child. Ann Neurol 29:104–107

    Article  PubMed  CAS  Google Scholar 

  • Brenner B, Sánchez-Vega B, Wu S-M, Lanir N, Stafford DW, Solera J (1998) A missense mutation in γ-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 12:4554–4559

    Google Scholar 

  • Brook CG, Wagner H, Zachmann M, Prader A, Armendares S, Frenk S, Aleman P, Najjar SS, Slim MS, Genton N, Bozie C (1973) Familial occurrence of persistent Müllerian structures in otherwise normal males. Br Med J 1:771–773

    Article  PubMed  CAS  Google Scholar 

  • Buresi C, Ghanem N, Huck S, Lefranc G, Lefranc M-P (1989) Exon duplication and triplication in the human T-cell receptor gamma constant region genes and RFLP in French, Lebanese, Tunisian, and Black African populations. Immunogenetics 29:161–172

    Article  PubMed  CAS  Google Scholar 

  • Cabannes R, Taleb N, Ghorra F, Schmitt-Beurrier A (1965): Etudes des types hémoglobiniques dans la population du Liban. Nouv Rev Fr Hematol 5:851–856

    PubMed  CAS  Google Scholar 

  • Chaib H, Place C, Salem N, Chardenoux S, Vincent C, Weissenbach J, El-Zir E, Loiselet J, Petit C (1996) A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum Mol Genet 5:155–158

    Article  PubMed  CAS  Google Scholar 

  • Chehab FF, Khouri FP, Deeb SS (1984) Globin synthetic ratios in homozygous beta-thalassemia patients from Lebanon. Hemoglobin 8:151–162

    Article  PubMed  CAS  Google Scholar 

  • Chehab FF, Der Kaloustian V, Khouri FP, Deeb SS, Kan YW (1987) The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis. Blood 69:1141–1145

    PubMed  CAS  Google Scholar 

  • Choueiri RN, Fayad MN, Farah A, Mikati MA (2001) Classification of epilepsy syndromes and role of genetic factors. Pediatr Neurol 24:37–43

    Article  PubMed  CAS  Google Scholar 

  • Chu ET, Rosenwasser LJ, Dinarello CA, Rosen FS, Geha RS (1984) Immunodeficiency with defective T-cell response to interleuken 1. Proc Natl Acad Sci USA 81:4945–4949

    Article  PubMed  CAS  Google Scholar 

  • Courbage Y, Fargues P (1973) La situation démographique au Liban. Publications de l’Université Libanaise, Beyrouth

    Google Scholar 

  • Dabbous IA, Firzli SS (1968) Sickle cell anemia in Lebanon. Its predominance in Mahommedans. Z Morphol Anthropol 59:225–231

    PubMed  CAS  Google Scholar 

  • Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, Dolfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V (2004) ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 75:801–806

    Article  PubMed  CAS  Google Scholar 

  • Darwish M, Armenian HK (1987) A case-control study of rheumatoid arthritis in Lebanon. Int J Epidemiol 16:420–424

    Article  PubMed  CAS  Google Scholar 

  • DeAngelis MM, McGee TL, Keats BJB, Slim R, Berson EL, Dryja TP (2001) Two families from New England with Usher syndrome type 1C with distinct haplotypes. Am J Ophthalmol 131:355–358

    Article  PubMed  CAS  Google Scholar 

  • De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Teinert PM, Compton JG, Markova N, Rizzo WB (1996) Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 12:52–57

    Article  PubMed  Google Scholar 

  • De Meeus A, Stephan E, Debrus S, Jean M-K, Loiselet J, Weissenbach J, Demaille J, Bouvagnet P (1995) An isolated cardiac conduction disease maps to chromosome 19q. Circ Res 77:735–740

    Article  PubMed  Google Scholar 

  • De Moerloose P, Germanos-Haddad M, Boehlen F, Neerman-Arbez M (2004) Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain. Blood Coagul Fibrinolysis 15:269–272

    Article  PubMed  Google Scholar 

  • De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Lévy N, Mégarbané A (2003) Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and spicing mutations. J Med Genet 40:e87

    Article  PubMed  Google Scholar 

  • De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N (2005) Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. J Med Genet 42:260–265

    Article  PubMed  CAS  Google Scholar 

  • De Vaumas E (1954) Le Liban, Etude de Géographie Physique. Firmin-Didot, Paris

    Google Scholar 

  • De Vaumas E (1955) La répartition confessionnelle au Liban et l’équilibre de l’Etat Libanais. Rev Géogr Alp 42:511–603

    Article  Google Scholar 

  • Deeb Z, Frayha RA (1976) Multiple vacuum discs: an early sign of ochronosis. Radiologic findings in two brothers. J Rheumatol 3:82–87

    PubMed  CAS  Google Scholar 

  • Delague V, Bareil C, Tuffery S, Bouvargnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A (2000a): Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am J Hum Genet 67:236–243

    Article  PubMed  CAS  Google Scholar 

  • Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A (2000b) Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase. Horm Res 53:77–82

    Article  PubMed  CAS  Google Scholar 

  • Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M (2001): Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family. Ann Neurol 50:250–253

    Article  PubMed  CAS  Google Scholar 

  • Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A (2002): A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family. Neurogenetics 4:23–27

    Article  PubMed  CAS  Google Scholar 

  • Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N (2007) Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet 81:1–16

    Article  PubMed  CAS  Google Scholar 

  • Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl H-HM, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaїed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir É, Aubois A, Joannard A, Levilliers J, Garabédian É-N, Mueller RF, McKinlay Gardner RJ, Petit C (1997) Prelingual deafness: high prevalence of a 30delG mutation in the connexion 26 gene. Hum Mol Genet 12:2173–2177

    Article  Google Scholar 

  • Der Kaloustian VM, Baghdassarian SA (1972) The autosomal recessive variety of congenital stationary night-blindness with myopia. J Med Genet 9:67–69

    Article  PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Mnaymneh WA (1973) Bilateral tibial aplasia with lobster-claw hands. A rare genetic entity. Acta Paediatr Scand 62:77–78

    Article  Google Scholar 

  • Der Kaloustian VM, Musallam SS (1975) Treatment of acrodermatitis enteropathica with oral zinc sulfate. Letter to the editor. Pediatrics 55:744

    Google Scholar 

  • Der Kaloustian VM, Kronfol NM, Takla R, Habash A, Khazin A (1971) Leprechaunism. Am J Dis Child 122:442–445

    PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Afifi AK, Sinno AA, Mire J (1972a) The Rubinstein–Taybi syndrome. Am J Dis Child 124:897–902

    PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Sinno AA, Nassar SI (1972b) Acrocephalopolysyndactyly, type II (Carpenter’s syndrome). Am J Dis Child 124:716–718

    PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, De Weerd-Kastelein EA, Kleijer WJ, Keijzer W, Bootsma D (1974a) The genetic defect in the De Sanctis–Cacchione syndrome. J Invest Dermatol 63:392–396

    Article  PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Slim MS, Mishalany HG (1974b) Familial congenital duodenal atresia. Pediatrics 54:118

    PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Musallam SS, Sanjad SA, Murib A, Hammad WD, Idriss ZH (1976) Oral treatment of acrodermatitis enteropathica with zinc sulfate. Am J Dis Child 130:421–423

    PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Naffah J, Loiselet J (1980) Genetic diseases in Lebanon. Am J Med Genet 7:187–203

    Article  PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Khoury MJ, Hallal R, Idriss ZH, Deeb ME, Wakid NW, Haddad FS (1981) Sandhoff disease: a prevalent form of infantile Gm2 gangliosidosis in Lebanon. Am J Hum Genet 33:85–89

    PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Freij BJ, Kurban AK (1982) Prolidase deficiency: an inborn error of metabolism with major dermatological manifestations. Dermatologica 164:293–304

    Article  PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Jarudi NI, Khoury MJ, Afifi AK, Bahuth NB, Deeb ME, Shammas J, Mikati MA (1985a) Familial spinocerebellar degeneration with corneal dystrophy. Am J Med Genet 20:325–339

    Article  PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Ratl H, Malouf J, Hatem J, Slim M, Tomeh A, Khouri J, Kutayli F (1985b) Tetralogy of fallot with pulmonary atresia in siblings. Am J Med Genet 21:119–122

    Article  PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Khudr A, Firzli S, Dabbous I (1987a) Psychosocial and economic profile of a sample of families with thalassemic children in Lebanon. J Med Genet 24:772–777

    Article  PubMed  CAS  Google Scholar 

  • Der Kaloustian VM, Masri R, Khudr A, Talj F, Libbus B, Nabulsi M, Khouri FP (1987b) Down syndrome in two siblings with 47, XY,+21 and 46, XY/46, XY,-21,+t(21q;21q). Hum Genet 75:97

    PubMed  CAS  Google Scholar 

  • Desgeorges M, Mégarbané A, Guittard C, Carles S, Loiselet J, Damaille J, Claustres M (1997) Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. Hum Genet 100:279–283

    Article  PubMed  CAS  Google Scholar 

  • Dhaini HR, Levy GN (2000) Arylamine N-acetyltransferase 1 (NAT1) genotypes in a Lebanese population. Pharmacogenet Genomics 10:79–83

    CAS  Google Scholar 

  • Drousiotou A, Stylianidou G, Anastasiadou V, Christopoulos G, Mavrikiou E, Georgiou T, Kalakoutis G, Oladimeji A, Hara Y, Suzuki K, Furihata K, Ueno I, Ioannou PA, Fensom AH (2000) Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community. Hum Genet 107:12–17

    Article  PubMed  CAS  Google Scholar 

  • Dudin G, Alexander D, Talj F, Deeb M, Musallam S, Der Kaloustian VM (1984a) Interstitial deletion of band q12 of chromosome 5. Clin Genet 25:455–456

    Google Scholar 

  • Dudin G, Traboulsi E, Khouri F, Der Kaloustian VM (1984b) Hereditary retinoblastoma and 13q- mosaicism. Cytogenet Cell Genet 38:235–237

    Article  PubMed  CAS  Google Scholar 

  • El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V (2003) Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve–Melchior– Clausen syndrome. Hum Mol Genet 12:357–364

    Article  PubMed  CAS  Google Scholar 

  • Eldahdah LT, Ormond KE, Nassar AH, Khalil T, Zahed LF (2007) Outcome of chromosomally abnormal pregnancies in Lebanon: obstetricians’ roles during and after prenatal diagnosis. Prenat Diagn 27:525–534

    Article  PubMed  Google Scholar 

  • El-Rassy I, Bou-Abdallah J, Al-Ghadban S, Bitar F, Nemer G (2008) Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1. Am J Med Genet 146A:937–939

    Article  CAS  Google Scholar 

  • El-Zahabi LM, Makarem J, Habbal Z, Otrock ZK, Taher A, Shamseddine A (2007) Gaucher disease: different clinical manifestations associated with a rare muttion (R48W) in a Lebanese family. Mol Genet Metab 91:402–404

    Article  PubMed  CAS  Google Scholar 

  • Epstein PA, Kidd DD (1981) Dermo-distortive urticaria: an autosomal dominant dermatologic disorder. Am J Med Genet 9:307–315

    Article  PubMed  CAS  Google Scholar 

  • Fadhil M, Ghabra TA, Deeb M, Der Kaloustian VM (1983): Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia. Am J Med Genet 26:123–131

    Google Scholar 

  • Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier AB, Bacq D, Legeai-Maller L, Bonaventure J, Munnich A, Cormier-Daire V (2002) Homozygosity mapping of a Weill–Marchesani syndrome locus to chromosome 19p13.3-p11.2. Hum Genet 110:366–370

    Article  PubMed  CAS  Google Scholar 

  • Fares F, Ran SA, David M, Zelnik N, Hecht Y, Khairaldeen H, Lerner A (2004) Identification of two mutations for ataxia telangiectasia amon the Druze community. Pren Diagn 24:358–362

    Article  CAS  Google Scholar 

  • Farra C, Medawar R, Mroueh S, Souaid M, Cabet F, Awwad J (2008) Cystic fibrosis: a new mutation in the Lebanese population. J Cyst Fibros 7:429–432

    Article  PubMed  CAS  Google Scholar 

  • Fayad MN, Yacoub A, Salman S, Khudr A, Der Kaloustian VM (1987) Juvenile hyaline fibromatosis: two new patients and review of the literature. Am J Med Genet 26:123–131

    Article  PubMed  CAS  Google Scholar 

  • Figueiredo MS, Dos Santos JE, Alberto FL, Zago MA (1992): High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolemia. J Med Genet 29:813–815

    Article  PubMed  CAS  Google Scholar 

  • Fischel-Ghodsian N, Bu X, Oztas S, Prezant TR, Danon Y, Shohat T, Rotter JI, Shohat M (1992) The gene for familial Mediterranean fever maps to the short arm of chromosome 16 in both Armenians and non-Ashkenazi Jews. Am J Hum Genet 41(Suppl):A187

    Google Scholar 

  • Frayha R, Nasr F (1971) Juvenile ankylosing spondylitis. J Med Liban 24:401–409

    PubMed  CAS  Google Scholar 

  • Frayha RA, Nassar VH, Dagher F, Salti IS (1972) Familial parathyroid carcinoma. J Med Liban 25:299–309

    PubMed  CAS  Google Scholar 

  • Frayha RA, Salti IS, Abu Haidar GI, Al-Khalidi U, Hemady K (1973) Hereditary xanthinuria and xanthine urolithiasis: an additional 3 cases. J Urol 109:871–873

    PubMed  CAS  Google Scholar 

  • Frayha RA, Salti IS, Arnaout A, Khachadurian A, Uthman SM (1977) Hereditary xanthinuria. Report of three patients and short review of the literature. Nephron 19:328–332

    Article  PubMed  CAS  Google Scholar 

  • Frayha R, Melhem R, Idriss H (1979) The Kniest (swiss cheese cartilage) syndrome. Description of a distinct arthropathy. Arthritis Rheum 22:286–289

    Article  PubMed  CAS  Google Scholar 

  • Fregin A, Rost S, Wolz W, Krebsova A, Muller CR, Oldenburg J (2002) Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16. Blood 100:3229–3232

    Article  PubMed  CAS  Google Scholar 

  • Freij BJ, Der Kaloustian VM (1986) Prolidase deficiency. A metabolic disorder presenting with dermatologic signs. Int J Dermatol 25:431–433

    Article  PubMed  CAS  Google Scholar 

  • Freij BJ, Levy HL, Dudin G, Mutasim D, Deeb M, Der Kaloustian VM (1984) Clinical and biochemical characteristics of prolidase deficiency in siblings. Am J Med Genet 19:561–571

    Article  PubMed  CAS  Google Scholar 

  • Fried K, Vure E (1974) A lethal autosomal recessive entero-colitis of early infancy. Clin Genet 6:195–196

    Article  PubMed  CAS  Google Scholar 

  • Fryns J-P, Hofkens G, Fabry G, Van Den Berghe H (1988) Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias. Clin Genet 33:57–59

    Article  PubMed  CAS  Google Scholar 

  • Fukushima K, Ramesh A, Srisailapathy CRS, Ni L, Wayne S, O’Neill ME, Van Camp G, Coucke P, Jain P, Wilcox ER, Smith SD, Kenyon JB, Zbar RIS, Smith RJH (1995) An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p – DFNB6. Genome Res 5:305–308

    Article  PubMed  CAS  Google Scholar 

  • Fuleihan DS, Der Kaloustian VM, Najjar SS (1971) The Russell–Silver syndrome. Report of three siblings. J Pediatr 78:654–657

    Article  PubMed  CAS  Google Scholar 

  • Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH (2001) Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 292:1394–1398

    Article  PubMed  CAS  Google Scholar 

  • Ghanem N, Dariavach P, Bensama M, Chibani J, Lefranc G, Lefranc MP (1988) Polymorphism of immunoglobulin lambda constant region genes in populations from France, Lebanon and Tunisia. Exp Clin Immunogenet 5:186–195

    PubMed  CAS  Google Scholar 

  • Ghayad E, Tohme A (1995) Behçet disease in Lebanon. J Med Liban 43:2–7

    PubMed  CAS  Google Scholar 

  • Haddad R, Uwaydat S, Dakroub R, Traboulsi EI (2001) Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance. Am J Med Genet 99:185–189

    Article  PubMed  CAS  Google Scholar 

  • Hajjar ET, Vincenti F, Salti IS (1974) Gluten-induced enteropathy. Osteomalacia as its principal manifestation. Arch Intern Med 134:565–566

    Article  PubMed  CAS  Google Scholar 

  • Hara Y, Ioannou P, Drousiotou A, Stylianidou G, Anastasiadou V, Suzuki K (1994) Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus. Hum Genet 94:136–140

    Article  PubMed  CAS  Google Scholar 

  • Harboyan G, Mamo J, Der Kaloustian V, Karam F (1971) Congenital corneal dystrophy with progressive sensorineural hearing loss. Arch Ophthalmol 85:27–32

    Article  PubMed  CAS  Google Scholar 

  • Harfouche JK (1965) Social structure of low income families in Lebanon. Khayat’s, Beirut, p 41

    Google Scholar 

  • Hechtman P, Boulay B, Bayleran J, Andermann E (1989) The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese. Clin Genet 35:364–375

    Article  PubMed  CAS  Google Scholar 

  • Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Talj E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D (2004) Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet 75:138–145

    Article  PubMed  CAS  Google Scholar 

  • Herman RH, Overhold EL, Hagler L (1969) Familial life-long persistent fever of unknown origin responding to dexamethasone and uronic acids. Am J Med 46:142–153

    Article  PubMed  CAS  Google Scholar 

  • Hirbli KI, Aboujaoudé JH, Ghorra FS, Barakat-el-Khoury WM (1990) Prévalence et incidence du diabète sucré au Liban. Diabète Métab 16:479–483

    PubMed  CAS  Google Scholar 

  • Hitti PK (1967) Lebanon in history – from the earliest times to the present, 3rd edn. McMillan, London

    Google Scholar 

  • Hochberg Z, Chayen R, Reiss N, Falik Z, Makler A, Munichor M, Farkas A, Goldfarb H, Ohana N, Hiort O (1996) Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5α-reductase 2 deficiency. J Clin Endocrinol Metab 81:2821–2827

    Article  PubMed  CAS  Google Scholar 

  • Idriss ZH, Der Kaloustian VM (1973) Acrodermatitis enteropathica. Clin Pediatr 12:393–395

    Article  CAS  Google Scholar 

  • Idriss ZH, Najjar SS, Der Kaloustian VM, Shammaa M (1975) Congenital erythropoietic porphyria. Am J Dis Child 129:701–702

    Google Scholar 

  • Inati A, Taher A, Bou Alawi W, Koussa S, Kaspar H, Shbaklo ZPA (2003) β-globin gene cluster haplotypes and HbF levels are not the only modulators of sickle cell disease in Lebanon. Eur J Haematol 70:79–83

    Article  PubMed  CAS  Google Scholar 

  • Irani-Hakime N, Tamim H, Kreidy R, Almawi WY (2000) The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese. Am J Hematol 65:45–49

    Article  PubMed  CAS  Google Scholar 

  • Jaatoul NY, Haddad NE, Khoury LA, Afifi AK, Bahuth NB, Deeb ME, Mikati MA, Der Kaloustian VM (1982) The Marden–Walker syndrome. Am J Med Genet 11:259–271

    Article  PubMed  CAS  Google Scholar 

  • Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac C-A, Mégarbané A, Serre J-L (2008) Familial Mediterranean fever in Lebanon: founder effects for different MEFV mutations. Ann Hum Genet 73:41–47

    Google Scholar 

  • Jeck N, Reinalter SC, Henne T, Marg W, Mallmann R, Pasel K, Vollmer M, Klaus G, Leonhardt A, Seyberth HW, Konrad M (2001) Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 108:e5

    Article  PubMed  CAS  Google Scholar 

  • Khachadurian AK (1962) Essential pentosuria. Am J Hum Genet 14:249–255

    PubMed  CAS  Google Scholar 

  • Khachadurian AK (1963) Nonalimentary fructosuria. Pediatrics 32:455–457

    PubMed  CAS  Google Scholar 

  • Khachadurian AK (1964) The inheritance of essential familial hypercholesterolemia. Am J Med 37:402–407

    Article  PubMed  CAS  Google Scholar 

  • Khachadurian AK (1968) Migratory polyarthritis in familial hypercholesterolemia (type II hyperlipoproteinemia). Arthritis Rheum 11:385–393

    Article  PubMed  CAS  Google Scholar 

  • Khachadurian AK (1972) A general review of clinical and laboratory features of familial hypercholesterolemia (type II hyperbetalipoproteinemia). In: Proceedings of the 19th Colloqium. Peeters protides of the biological fluids. Pergamon Press, 1971

    Google Scholar 

  • Khachadurian A, Abu Feisal K (1958) Alkaptonuria. Report of a family with severe cases in four successive generations, with metabolic studies in one patient. J Chronic Dis 7:455–465

    Article  PubMed  CAS  Google Scholar 

  • Khachadurian AK, Armenian HK (1974) Familial paroxysmal polyserositis (familial Meditrerranean fever). Incidence of amyloidosis and mode of inheritance. Birth Defects Orig Artic Ser 10(4):62–66

    PubMed  CAS  Google Scholar 

  • Khachadurian AK, Khachadurian LA (1964) The inheritance of renal glycosuria. Am J Hum Genet 16:189–194

    PubMed  CAS  Google Scholar 

  • Khachadurian AK, Somerville I (1965) Diabetes mellitus in Lebanon. A retrospective clinical study of 560 patients. J Chronic Dis 18:1309–1315

    Article  PubMed  CAS  Google Scholar 

  • Khachadurian AK, Sutherland JV (1975) Affective psychoses in Lebanon. J Med Liban 28:159–167

    Google Scholar 

  • Khachadurian AK, Uthman SM (1973) Experience with homozygous cases of familial hypercholesterolemia. A report of 52 patients. Nutr Metab 15:132–140

    Article  PubMed  CAS  Google Scholar 

  • Khachadurian AK, Freyha R, Shamma’a MM, Baghdassarian SA (1971) A-β-lipoproteinemia and colour-blindness. Arch Dis Child 46:871–873

    Article  PubMed  CAS  Google Scholar 

  • Khlat M (1988a) Consanguineous marriage and reproduction in Beirut, Lebanon. Am J Hum Genet 43:188–196

    PubMed  CAS  Google Scholar 

  • Khlat M (1988b) Consanguineous marriages in Beirut: time trends, spatial distribution. Soc Biol 35:324–330

    PubMed  CAS  Google Scholar 

  • Khlat M (1988c) Social correlates of consanguineous marriages in Beirut: a population-based study. Hum Biol 60:541–548

    PubMed  CAS  Google Scholar 

  • Khlat M, Halabi S (1986) Modernization and consanguineous marriage in Beirut. J Biosoc Sci 18:489–495

    Article  PubMed  CAS  Google Scholar 

  • Khlat M, Khudr A (1984) Cousin marriages in Beirut, Lebanon. Is the pattern changing? J Biosoc Sci 16:369–373

    Google Scholar 

  • Khlat M, Halabi S, Khudr A, Der Kaloustian VM (1986) Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut. Am J Med Genet 25:299–306

    Article  PubMed  CAS  Google Scholar 

  • Kurban AK, Azar HA (1969) Familial continuous skin peeling. Br J Dermatol 81:191–195

    Article  PubMed  CAS  Google Scholar 

  • Kurdi-Haidar B, Mason PJ, Bereebi A, Ankra-Badu G, Al-Ali A, Oppenheim A, Luzzatto L (1990) Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East. Am J Hum Genet 47:1013–1019

    PubMed  CAS  Google Scholar 

  • Lacombe A, Lee H, Zahed L, Choucair M, Muller J-M, Nelson SF, Salameh W, Vilain E (2006) Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet 79:113–119

    Article  Google Scholar 

  • Lalouel JM, Loiselet J, Lefranc G, Chaiban D, Chakhachiro L, Rivat L, Rapartz C (1976) Genetic differentiation among Lebanese communities. Acta Anthropogenet 1:15–33

    Google Scholar 

  • Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dolifus H (2006) Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet 11:1195–1203

    Article  CAS  Google Scholar 

  • Lefèvre C, Bouadjar B, Ferrand V, Tadini E, Mégharbané A, Lathrop M, Prud'homme JF, Fischer J (2006) Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 15:767–776

    Article  CAS  Google Scholar 

  • Lefranc G, Loiselet J, Rivat L, Ropartz C (1976) Gm, Km and ISf allotypes in the Lebanese population. Acta Anthropogenet 1:34–45

    Google Scholar 

  • Lehrman MA, Schneider WJ, Brown MS, Davis CG, Elhammer A, Russell DW, Goldstein JL (1987): The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. J Biol Chem 262:401–410

    PubMed  CAS  Google Scholar 

  • Loiselet J, Jarjouhi L (1974) L’intolérance au lactose chez l’adulte Libanais. J Med Liban 27:339–350

    PubMed  CAS  Google Scholar 

  • Loiselet J, Srouji G (1968): Répartition de la cholinestérase mutant parmi les communautés libanaises. Comparaison avec la répartition d’autres gènes. Ann Genet 11:152–156

    PubMed  CAS  Google Scholar 

  • Loiselet J, Karayacouboglu J, Boustany N, Khouri R (1971) Les lipides sanguins chez un groupe de jeunes Libanais. J Med Liban 24:311–328

    PubMed  CAS  Google Scholar 

  • Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, BSCL Working Group, Lathrop M, Capeau J (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 28:365–370

    Article  PubMed  Google Scholar 

  • Mahfouz RAR, Sabbagh AS, Zahed LF, Mahfoud ZR, Kalmoni RF, Otrock ZK, Taher AT, Zaatari GS (2006) Apolipoprotein E gene polymorphism and allele frequencies in the Lebanese population. Mol Biol Rep 33:145–149

    Article  PubMed  CAS  Google Scholar 

  • Mahfouz RAR, Sabbagh AS, Shammaa DMR, Otrock ZK, Zaatari GS, Taher AT (2008) Factor XIII gene V34L mutation in the Lebanese population: Another unique feature in this community? Mol Biol Rep 35:375–378

    Article  PubMed  CAS  Google Scholar 

  • Majdalani E, Vassoyan J (1974) A propos d’une observation de lymphohistiocytose familiale hémophagique. Arch Fr Pediatr 31:297–302

    PubMed  CAS  Google Scholar 

  • Makhoul NJ, Wells RS, Kaspar H, Shbaklo H, Taher A, Chakar N, Zalloua PA (2005) Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration. Ann Hum Genet 69:55–66

    Article  PubMed  CAS  Google Scholar 

  • Malouf J, Alam S, Kanj H, Mufarrij A, Der Kaloustian VM (1985a) Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal recessive disorder? Am J Med Genet 20:483–489

    Article  PubMed  CAS  Google Scholar 

  • Malouf J, Ratl H, Der Kaloustian VM (1985b) Apical hypertrophic cardiomyopathy in a father and daughter. Am J Med Genet 22:75–80

    Article  PubMed  CAS  Google Scholar 

  • Mamo JG, Tabbara KF (1976) Homocystinuria in Lebanon. J Med Liban 24:473–482

    Google Scholar 

  • Mansour AM, Traboulsi EI, Khawwam E, Dudin GE, Der Kaloustian VM (1984) Eye findings in interstitial deletion of band q12 of chromosome 5. Ophthalmic Paediatr Genet 4:117–119

    Article  PubMed  CAS  Google Scholar 

  • Mansour I, Delague V, Cazeneuve C, Dodé C, Chouery E, Pcheur C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, Grateau E, Mégarbané A, Naman R (2001) Familial Mediterranean fever in Lebanon: mutation spectrum, evidence of cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694I mutations. Eur J Hum Genet 9:51–55

    Article  PubMed  CAS  Google Scholar 

  • McLaren D, Zekian B (1971) Failure of enzymatic clearance of beta-carotene: the cause of vitamin A deficiency in a child. Am J Dis Child 121:278–280

    PubMed  CAS  Google Scholar 

  • Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, Permutt A, Halaby G (2004) Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinol Metab 89:1656–1661

    Article  PubMed  CAS  Google Scholar 

  • Medlej-Hashim M, Serre J-L, Corbani S, Saab O, Jalkh N, Delague V, Chouery E, Salem N, Loiselet J, Lefranc G, Mégarbané A (2005) Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. Eur J Med Genet 48:412–420

    Article  PubMed  Google Scholar 

  • Mégarbané A (2007) Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: report on a second Lebanese patient. Am J Med Genet 143A:1782–1787

    Article  PubMed  Google Scholar 

  • Mégarbané A, Ghanem I (2004) A newly recognized chondrodysplasia with multiple dislocations. Am J Med Genet 130A:107–109

    Article  PubMed  Google Scholar 

  • Mégarbané A, Ghanem I (2005) Severe autosomal dominant upper-limb mesomelic dysplasia: report of a second family. Clin Genet 68:567–569

    Article  PubMed  Google Scholar 

  • Mégarbané A, Sayad R (2007) Early lethal autosomal recessive enterocolitis: report of a second family. Clin Genet 71:89–90

    Article  PubMed  Google Scholar 

  • Mégarbané A, Noujeim Z, Fabre M, Der Kaloustian VM (1998) New form of hidrotic ectodermal dysplasia in a Lebanese family. Am J Med Genet 75:196–199

    Article  PubMed  Google Scholar 

  • Mégarbané A, Delague V, Salem N, Loiselet J (1999a) Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family. Am J Med Genet 87:88–90

    Article  PubMed  Google Scholar 

  • Mégarbané A, Haddad FA, Haddad-Zebouni S, Achram M, Eich G, Le Merrer M, Superti-Furga A (1999b) Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dysplasia. Clin Genet 56:71–76

    Article  PubMed  Google Scholar 

  • Mégarbané A, Desguerres L, Rizkallah E, Delague V, Nabbut R, Barois A, Urtizberea A (2000) Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family. Am J Med Genet 92:117–121

    Article  PubMed  Google Scholar 

  • Mégarbané A, Delague V, Ruchoux MM, Rizkallah E, Maurage CA, Viollet L, Rouaix-Emery N, Urtizberea A (2001a) New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. Am J Med Genet 101:135–141

    Article  PubMed  Google Scholar 

  • Mégarbané A, Ruchoux MM, Loeys B, Ayoub N, Nuytinck L (2001b) Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndrome. Am J Med Genet 104:221–224

    Article  PubMed  Google Scholar 

  • Mégarbané A, Waked N, Chouery E, Moglabey YB, Saliba N, Mornet E, Serre JL, Slim R (2001c) Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers. Am J Med Genet 98:244–249

    Article  PubMed  Google Scholar 

  • Mégarbané A, Gannagé-Yared MH, Khalifé AA, Fabre M (2003a) Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: report of a second family with additional findings. Am J Med Genet 119A:214–217

    Article  PubMed  Google Scholar 

  • Mégarbané A, Ghanem I, Le Merrer M (2003b) Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. Am J Med Genet 122A:252–256

    Article  PubMed  Google Scholar 

  • Mégarbané A, Rassi S, Chouery E, Delague V, de Nanclares P, Leal G, Tabet M, Castano L, Loiselet J (2003c) A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities. Am J Med Genet 120A:276–282

    Article  PubMed  Google Scholar 

  • Mégarbané H, Haddad M, Delague V, Renoux J, Boehm N, Mégarbané A (2004) Further delineation of the odonto-onycho-dermal dysplasia syndrome. Am J Med Genet 129A:193–197

    Article  PubMed  Google Scholar 

  • Mégarbané A, Chouery E, Ghanem I (2008a) A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes. Am J Med Genet 146A:1865–1870

    Article  PubMed  CAS  Google Scholar 

  • Mégarbané A, Dagher R, Melki I (2008b) Sib pair with previously unreported skeletal dysplasia. Am J Med Genet 146A:2916–2919

    Article  PubMed  Google Scholar 

  • Mégarbané H, Cluzeau C, Bodemer C, Freitag S, Chalabi-Atallah M, Mégarbané A, Smahi A (2008c) Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. Am J Med Genet 146A:2657–2662

    Article  PubMed  CAS  Google Scholar 

  • Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ (2009) A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrate and sensorineural deafness. Eur J Hum Genet 17(8):1076–1079

    Article  PubMed  CAS  Google Scholar 

  • Mikaelian DO, Der Kaloustian VM, Shahin NA, Barsoumian VM (1970) Congenital ectodermal dysplasia with hearing loss. Arch Otolaryngol 92:85–89

    Article  PubMed  CAS  Google Scholar 

  • Mikati MA, Melhem RE, Najjar SS (1981) The syndrome of hyperostosis and hyperphosphatemia. J Pediatr 99:900–904

    Article  PubMed  CAS  Google Scholar 

  • Mikati MA, Dudin G, Der Kaloustian VM, Benson PF, Fensom AH (1982) Maple syrup urine disease with increased intracranial pressure. Am J Dis Child 136:642–643

    PubMed  CAS  Google Scholar 

  • Mikati MA, Barakat AY, Sulh HB, Der Kaloustian VM (1984) Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies – a new multisystem syndrome. Helvet Paediatr Acta 39:463–471

    CAS  Google Scholar 

  • Mikati MA, Najjar SS, Sahli IF, Melhem RE, Mansour S, Der Kaloustian VM (1985) Microcephaly, hypergonadotrophic hypogonadism, short stature, and minor anomalies: a new syndrome. Am J Med Genet 22:599–608

    Article  PubMed  CAS  Google Scholar 

  • Mishalany HG, Der Kaloustian VM (1971) Familial multiple level intestinal atresia: report of two siblings. J Pediatr 79:124–125

    Article  PubMed  CAS  Google Scholar 

  • Mishalany HG, Najjar FB (1968) Famillial jejunal atresia. Three cases in one family. J Pediatr 73:753–755

    Article  PubMed  CAS  Google Scholar 

  • Mishalany HG, Der Kaloustian VM, Ghandour MH (1970) Familial congenital duodenal atresia. Pediatrics 46:629–634

    PubMed  CAS  Google Scholar 

  • Mishalany HG, Idriss ZH, Der Kaloustian VM (1978) Pyloroduodenal atresia (diaphragm type): an autosomal recessive disease. Pediatrics 62:419–420

    PubMed  CAS  Google Scholar 

  • Mitchell GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C, Der Kaloustian V, Kaiser-Kupfer M, Valle D (1988) An initiator codon mutation in ornithine-δ-aminotransferase causing gyrate atrophy. J Clin Invest 81:630–633

    Article  PubMed  CAS  Google Scholar 

  • Mossman J, Patrick AD, Fensom AH, Tansley LR, Benson PF, Der Kaloustian VM, Dudin G (1981) Correct prenatal diagnosis of a Hurler fetus where amniotic fluid cell cultures were of maternal origin. Prenat Diagn 1:121–124

    Article  PubMed  CAS  Google Scholar 

  • Mossman J, Young EP, Patrick AD, Fensom AH, Ellis M, Benson PF, Der Kaloustian VM (1983) Prenatal tests for Sanfilippo disease type B in four pregnancies. Prenat Diagn 3:347–350

    Article  PubMed  CAS  Google Scholar 

  • Mudawwar F, Geha R (1975) Severe combined immunodeficiency in Lebanon. J Med Liban 28:467–476

    Google Scholar 

  • Mumtaz G, Tamim H, Kanaan M, Khawaja M, Khogali M, Wakim G, Yunis K (2007) Effect of consanguinity on birth weight for gestational age in a developing country. Am J Epidemiol 165:742–752

    Article  PubMed  Google Scholar 

  • Mustapha M, Chardenoux S, Nieder A, Salem N, Weissenbach J, El-Zir E, Loiselet J, Petit C (1998) A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36. Eur J Hum Genet 6:245–250

    Article  PubMed  CAS  Google Scholar 

  • Mustapha M, Well D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C (1999) An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 8:409–412

    Article  PubMed  CAS  Google Scholar 

  • Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, Mégarbané A (2001) Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexion 26 (GJB2) gene. J Med Genet 38(10):E36

    Article  PubMed  CAS  Google Scholar 

  • Nabulsi MM, Tamim H, Sabbagh M, Obeid MY, Yunis KA, Bitar FF (2003) Parental consanguinity and congenital heart malformations in a developing country. Am J Med Genet 116A:342–347

    Article  PubMed  Google Scholar 

  • Naffah J (1973) Rubinstein–Taybi syndrome with ring E chromosome. Abstract, 4th International Conference on Birth Defects, Vienna

    Google Scholar 

  • Naffah J (1974) Dermatoglyphics and flexion creases in the Lebanese population. Am J Phys Anthropol 41:391–409

    Article  Google Scholar 

  • Naffah J (1976) The Dyggve–Melchior–Clausen syndrome. Am J Hum Genet 28:607–614

    PubMed  CAS  Google Scholar 

  • Naffah J, Der Kaloustian VM (1975): Un remaniement complexe intéressant les chromosomes 3 et 5 chez un enfant polymalformé. Ann Génét 18:121–124

    PubMed  CAS  Google Scholar 

  • Naffah J, Taleb N (1974) Deux nouveaux cas de syndrome Dyggve-Melchior-Clausen avec hyperplasie de l’apophyse odontoïde et compression spinale. Arch Fr Pédiatr 31:985–992

    PubMed  CAS  Google Scholar 

  • Naffah J, Ghosn G, Gharios N (1972) A propos de trois nouveaux cas dans une même fratrie du syndrome de Meckel ou dysencéphalie splanchnokystique de Grüber. Arch Fr Pédiatr 23:109–1081

    Google Scholar 

  • Naffah J, Bitar E, Nasr W, Khoury K (1975) Etude génétique de la polysérite paroxystique familiale – 72 cas. Nouv Presse Méd 4:1031–1033

    PubMed  CAS  Google Scholar 

  • Najjar S (1963) Pendred’s syndrome in two families living in an endemic goiter area. Br Med J 5348:31–33

    Article  Google Scholar 

  • Najjar SS (1964) Hypothyroidism in children from an endemic goiter area. J Pediatr 64:372–380

    Article  PubMed  CAS  Google Scholar 

  • Najjar SS, Jarrah A (1964) Pigmentation in Addison’s disease. Am J Dis Child 107:198–201

    PubMed  CAS  Google Scholar 

  • Najjar SS, Mahmud J (1968) Diabetes insipidus and diabetes mellitus. J Pediatr 73:251–253

    Article  PubMed  CAS  Google Scholar 

  • Najjar SS, Nachman HS (1965) The Kocher-Debré-Sémélaigne syndrome:hypothyroidism with muscular “hypertrophy. J Pediatr 66:901–908

    Article  PubMed  CAS  Google Scholar 

  • Najjar SS, Yunoszai K, Der Kaloustian VM (1963) Hypothyroidism in children. A review of 47 cases. J Med Liban 16:181–186

    PubMed  CAS  Google Scholar 

  • Najjar SS, Farah FS, Kurban AK (1968) Tumoral calcinosis and pseudoxanthoma elasticum. J Pediatr 72:243–247

    Article  PubMed  CAS  Google Scholar 

  • Najjar SS, Der Kaloustian VM, Nassif SI (1970) Genital anomaly, mental retardation, and cardiomyopathy: a new syndrome? J Pediatr 83:286–288

    Google Scholar 

  • Najjar SS, Takla RJ, Nassar VH (1974) The syndrome of rudimentary testes: occurrence in five siblings. J Pediatr 84:119–122

    Article  PubMed  CAS  Google Scholar 

  • Najjar SS, Salem GM, Idriss ZH (1975) Congenital generalized lipodystrophy. Acta Paediatr Scand 64:273–279

    Article  PubMed  CAS  Google Scholar 

  • Najjar SS, Der Kaloustian VM, Ardati KO (1984) Genital anomaly and cardiomyopathy: a new syndrome. Clin Genet 26:371–373

    Article  PubMed  CAS  Google Scholar 

  • Najjar SS, Saikaly MG, Zaytoun GM, Abdelnoor A (1985) Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndrome. Arch Dis Child 60:823–828

    Article  PubMed  CAS  Google Scholar 

  • Neumann LM, El Ghouzzi V, Paupe V, Weber H-P, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V (2006) Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia. Am J Med Genet 140A:421–426

    Article  CAS  Google Scholar 

  • Newton FH, Rosenberg RN, Lampert PW, O’Brien JS (1971) Neurological involvement in Urback–Wiethe’s disease (lipoid proteinosis): a clinical, ultrastructural, and chemical study. Neurology 21:1205–1213

    Article  PubMed  CAS  Google Scholar 

  • Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE (2002) Novel mutation in the Δ-sterol reductase gene in three Lebanese sibs with Smith–Lemli–Opitz (RSH) syndrome. Am J Med Genet 110:103–108

    Article  PubMed  Google Scholar 

  • Oldenburg J, von Brederlow B, Fregin A, Rost S, Wolz W, Eberl W, Eber S, Lenz E, Schwaab R, Brackmann HH, Effenberger W, Harbrecht U, Schurgers LJ, Vermeer C, Müller CR (2000) Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex. Thromb Haemost 84:937–941

    PubMed  CAS  Google Scholar 

  • Oppenheim A, Friedlander Y, Dann EJ, Berkman N, Pressman Schwartz S, Leitersdorf E (1991) Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the “Lebanese” allele at the low density lipoprotein receptor gene locus and by an additional independent major factor. Hum Genet 88:75–84

    Article  PubMed  CAS  Google Scholar 

  • Parkman R, Rappeport J, Geha R, Belli J, Cassady R, Levey R, Nathan DG, Rosen FS (1978) Complete correction of the Wiskott–Aldrich syndrome by allogenic bone marrow transplantation. N Engl J Med 298:921–926

    Article  PubMed  CAS  Google Scholar 

  • Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V (2004) Recent advances in Dyggve–Melchior–Clausen syndrome. Mol Genet Metab 83:1–59

    Article  CAS  Google Scholar 

  • Paw BH, Moskowitz SM, Uhrhammer N, Wright N, Kaback MM, Neufeld EF (1990) Juvenile Gm2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the α-subunit of β-hexosaminidase. J Biol Chem 265:9452–9457

    PubMed  CAS  Google Scholar 

  • Pipkin AC, Pipkin SB (1950) A pedigree of generalized lentigo. J Hered 4:79–82

    Google Scholar 

  • Pras E, Aksentijevitch I, Gruberg L, Below JE Jr, Prosen L, Dean M, Steinberg AD, Pras M, Kastner DL (1992) Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 326(23):1509–1513

    Google Scholar 

  • Qatanani M, Taher A, Koussa S, Naaman R, Fisher C, Rugless M, Old J, Zahed L (2000) β-thalassaemia intermedia in Lebanon. Eur J Haematol 64:237–244

    Article  PubMed  CAS  Google Scholar 

  • Reimann HA, Moadié J, Semerjian S, Sahyoun PF (1954) Periodic peritonitis – heredity and pathology. Report of seventy-two cases. J Am Med Assoc 154:1254–1259

    Article  PubMed  CAS  Google Scholar 

  • Rivière J-B, Verlaan DJ, Shekarabi M, Lafrenière RG, Bénard M, Der Kaloustian VM, Shbaklo Z, Rouleau GA (2004) A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. Ann Neurol 56:572–575

    Article  PubMed  CAS  Google Scholar 

  • Rössler J, Breitenstein S, Havers W (2003) Late onset of Imerslund–Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon. Eur J Pediatr 162:808–809

    Article  PubMed  Google Scholar 

  • Rutland J, de Longh RV (1990) Random ciliary orientation: a cause of respiratory tract disease. N Engl J Med 323:1681–1684

    Article  PubMed  CAS  Google Scholar 

  • Saab YB, Gard PR, Overall AD (2007) The geographic distribution of the ACE II genotype: a novel finding. Genet Res 89:259–267

    Article  PubMed  CAS  Google Scholar 

  • Sabbagh AS, Daher RT, Otrock ZK, Abdel Khalek RN, Zaatari GS, Mahfouz RA (2007a) ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature. Mol Biol Rep 34:267–270

    Article  PubMed  CAS  Google Scholar 

  • Sabbagh AS, Otrock ZK, Mahfoud ZR, Zaatari GS, Mahfouz RAR (2007b) Angiotensin-converting enzyme gene polymorphism and allele frequencies in the Lebanese population: prevalence and review of the literature. Mol Biol Rep 34:47–52

    Article  PubMed  CAS  Google Scholar 

  • Sabbagh AS, Taher AT, Zaatari GS, Mahfouz RAR (2007c) Gene frequencies of the HPA-1 platelet antigen alleles in the Lebanese population. Transfus Med 17:473–478

    Article  PubMed  CAS  Google Scholar 

  • Sabbagh AS, Ghasham M, Abdel Khalek R, Greije L, Shammaa DMR, Zaatari GS, Mahfouz RA (2008a) MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center. Mol Biol Rep 35:447–451

    Article  PubMed  CAS  Google Scholar 

  • Sabbagh AS, Mahfoud Z, Taher A, Zaatari G, Daher R, Mahfouz RA (2008b) High prevalence of MTHFR gene A1298C polymorphism in Lebanon. Genet Test 12:75–80

    Article  PubMed  CAS  Google Scholar 

  • Salam M (1963) Phenylketonuria in a child from the Middle East. Am J Dis Child 105:102–103

    PubMed  CAS  Google Scholar 

  • Salam M, Idriss H (1964) Infantile amaurotic familial idiocy and gargoylism in siblings. Pediatrics 34:658–663

    PubMed  CAS  Google Scholar 

  • Salem GM, Salti IS, Abu Haydar FR (1972) Peutz–Jeghers syndrome: report of two cases from Lebanon associated with endocrine abnormalities. J Med Liban 25:475–480

    PubMed  CAS  Google Scholar 

  • Salem G, Najjar SS, Zeynoun ST, Farah FS (1973) Lipodystrophy. J Med Liban 26:259–267

    PubMed  CAS  Google Scholar 

  • Salti IS, Mufarrij IS (1981) Familial Cushing disease. Am J Med Genet 8:201–204

    Article  Google Scholar 

  • Salti IS, Salem Z (1979) Famillial hypogonadotropic hypogonadism with alopecia. Can Med Assoc J 121:428–430

    Google Scholar 

  • Salti I, Kattuah N, Alam S, Wehby V, Frayha R (1976) The effect of allopurinol on oxypurine excretion in xanthinuria. J Rheumatol 3:201–204

    PubMed  CAS  Google Scholar 

  • Samaha H, Rahal EA, Abou-Jaoude M, Younes M, Dacchache J, Hakime N (2003) HLA class II allele frequencies in the Lebanese population. Mol Immunol 39:1079–1081

    Article  PubMed  CAS  Google Scholar 

  • Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M, Chaib H, Nehmé A, Mégarbané A, Loiselet J, Petit C, Slim R (1998) The Usher syndrome in the Lebanese population and further refinements of the USH2A candidate region. Hum Genet 103:193–198

    Article  PubMed  CAS  Google Scholar 

  • Schulze-Bahr E, Haverkamp W, Wedekind H, Rubie C, Hördt M, Borggrefe M, Assmann G, Breithardt G, Funke H (1997) Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous. Hum Genet 100:573–576

    Article  PubMed  CAS  Google Scholar 

  • Schwabe AD, Peters RS (1974) Familial Mediterranean fever in Armenians: analysis of 100 cases. Medicine 53:453–462

    Article  PubMed  CAS  Google Scholar 

  • Serre JL (1976) L’apport de l’étude des systèmes HLA dans la description de la réalité anthropobiologique des communautés libanaises. Thèse de 3ème cycle, Université Paris VII

    Google Scholar 

  • Serre JL, Lefrance G, Loiselet J, Jacquard H (1979) HLA markers in six Lebanese religious subpopulations. Tissue Antigens 14:251–255

    Article  Google Scholar 

  • Shahid M, Abu Haydar N (1962) Sickle cell disease in Syria and Lebanon. Acta Haematol 27:268–273

    Article  Google Scholar 

  • Shahid MJ, Khouri FP, Ballas SK (1972) Fanconi’s anaemia: report of a patient with significant chromosomal abnormallities in bone marrow cells. J Med Genet 9:474–478

    Article  PubMed  CAS  Google Scholar 

  • Shahid MJ, Khouri FP, Sahli IF (1974) Haemoglobin H disease and thalassaemia. J Med Genet 11:275–279

    Article  PubMed  CAS  Google Scholar 

  • Shammaa DMR, Sabbagh AS, Taher AT, Zaatari GS, Mahfouz RAR (2008) Plasminogen Activator Inhibitor-1 (PAI-1) gene 4G/5G alleles frequency distribution in the Lebanese population. Mol Biol Rep 35:453–457

    Article  PubMed  CAS  Google Scholar 

  • Shammas HF, Tabbara KF, Der Kaloustian VM (1976) Atypical serum cholinesterase in a family with congenital distichiasis. J Med Genet 13:514–515

    Article  PubMed  CAS  Google Scholar 

  • Shammas HF, Tabbara KF, Der Kaloustian VM (1979) Distichiasis of the lids and lymphedema of the lower extremities: a report of ten cases. J Pediatr Ophthalmol Strabismus 16:129–132

    PubMed  CAS  Google Scholar 

  • Shamseddine A, Taher A, Fakhani S, Zhang M, Scott R, Habbal MZ (2004) Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family. Am J Med Genet 125A:257–260

    Article  PubMed  CAS  Google Scholar 

  • Shawaf S, Noureddin B, Khouri A, Traboulsi EI (1995) A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Ophthalmic Genet 16:163–169

    Article  PubMed  CAS  Google Scholar 

  • Shohat M, Bu X, Shohat T, Fischel-Ghodsian N, Magal N, Nakamura Y, Schwabe AD, Schlezinger M, Danon Y, Rotter J (1992) The gene for familial Mediterranean fever in both Armenian and non-Ashkenazi Jews is linked to the α-globin complex on 16p: evidence for locus homogeneity. Am J Hum Genet 51:1349–1354

    PubMed  CAS  Google Scholar 

  • Sillén A, Anton-Lamprecht I, Braun-Quentin C, Kraus CS, Sayli BS, Ayuso C, Jagell S, Küster W, Wadelius C (1998) Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren–Larsson syndrome. Hum Mutat 12:377–384

    Article  PubMed  Google Scholar 

  • Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med 43:227–253

    Article  PubMed  CAS  Google Scholar 

  • Solh HM, Azoury RS, Najjar SS (1983) Peutz–Jeghers syndrome associated with precocious puberty. J Pediatr 103:593–595

    Article  PubMed  CAS  Google Scholar 

  • Soua Z, Ghanem N, Ben Salem M, Lefranc G, Lefranc M-P (1989) Frequencies of the human immunoglobulins IGHA2*M1 and IGHA2*M2 alleles corresponding to the A2m(1) and A2m(2) allotypes in the French, Lebanese. Tunisian and Black African populations. Nucleic Acids Res 17:3625

    Article  PubMed  CAS  Google Scholar 

  • Souraty N, Noun P, Djambas-Khayat C, Chouery E, Pangrazio A, Villa A, Lefranc G, Frattini A, Mégarbané A (2007) Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. Eur J Med Genet 50:188–199

    Article  PubMed  Google Scholar 

  • Soussou I, Der Kaloustian VM, Slim MS (1974) Familial imperforate anus: report of a family. Dis Colon Rectum 17:562–564

    Article  PubMed  CAS  Google Scholar 

  • Spranger J, Maroteaux P, Der Kaloustian VM (1975) The Dyggve–Melchior–Clausen syndrome. Radiology 114:415–421

    Google Scholar 

  • Stayoussef M, Benmansour J, Al-Jenaidi FA, Nemr R, Ali ME, Mahjoub T, Almawi WY (2009) Influence of common and specific HLA-DRB1/DQB1 haplotypes on genetic susceptibilities of three distinct Arab populations to type 1 diabetes. Clin Vaccine Immunol 16:136–138

    Article  PubMed  CAS  Google Scholar 

  • Stéphan E (1954) Bloc auriculo-ventriculaire chez trois membres d’une même famille. Rev Med Moyen Orient 11:246–248

    PubMed  Google Scholar 

  • Stéphan E (1974) Familial atrioventricular block. Letter to the editor. JAMA 228:697

    Article  PubMed  Google Scholar 

  • Stéphan E (1978) Hereditary bundle branch system defect. Survey of a family with 4 affected generations. Am Heart J 95:89–95

    Article  PubMed  Google Scholar 

  • Stéphan E, de Meeus A, Bouvagnet P (1997) Hereditary bundle branch defect: right bundle branch blocks of different causes have different morphologic characteristics. Am Heart J 133:249–256

    Article  PubMed  Google Scholar 

  • Strahler JR, Rosenbloom BB, Hanash SM (1983) A silent, neutral substitution detected by reverse-phase high-performance liquid chromatography: hemoglobin Beirut. Science 221:860–862

    Article  PubMed  CAS  Google Scholar 

  • Sulh HM, Steinmann B, Rao VH, Dudin G, Zeid JA, Slim M, Der Kaloustian VM (1984) Ehlers-Danlos syndrome type IV D: an autosoomal recessive disorder. Clin Genet 25:278–287

    Article  PubMed  CAS  Google Scholar 

  • Tabbara KF, Khouri FP, Der Kaloustian VM (1973) Rieger’s syndrome with chromosomal anomaly. Can J Ophthalmol 8:488–491

    PubMed  CAS  Google Scholar 

  • Taher A, Khalil I, Shamseddine A, El-Ahdab F, Bazarbachi A (2001) High prevalence of factor V Leiden mutation among healthy individuals and patients with deep venous thrombosis in Lebanon: is the Eastern Mediterranean region the area of origin of this mutation? Thromb Haemost 86:723–724

    PubMed  CAS  Google Scholar 

  • Taleb N, Shahid M (1967) Les anémies méditerranéennes (thalassémies). J Med Liban 20:127–139

    PubMed  CAS  Google Scholar 

  • Taleb N, Loiselet J, Ghorra F, Sfeir A (1964): Sur la déficience en glucose-6-phosphate déshydrogénase dans les populations autochtones du Liban. C R Acad Sci (Paris) 258:5749–5751

    CAS  Google Scholar 

  • Taleb N, Loiselet J, Macaron C (1969) Aspects de la sicklanémie au Liban. J Med Liban 22:551–558

    PubMed  CAS  Google Scholar 

  • Tamim H, Khogali M, Beydoun H, Melki I, Yunis K (2003) Consanguinity and apnea of prematurity. Am J Epidemiol 158:942–946

    Article  PubMed  Google Scholar 

  • Tamouza R, Mansour I, Bouguacha N, Klayme S, Djouadi K, Laoussadi S, Azoury M, Dulphy N, Ramasawmy R, Krishnamoorthy R, Toubert A, Naman R, Charron D (2001) A new HLA-B*27 allele (B*2719) identified in a Lebanese patient affected with ankylosing spondylitis. Tissue Antigens 58:30–33

    Article  PubMed  CAS  Google Scholar 

  • Teebi AS, Al-Awadi SA (1986) Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. J Med Genet 2:189–191

    Article  Google Scholar 

  • Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V (2002) Homozygosity mapping of a Dyggve–Melchior–Clausen syndrome gene to chromosome 18q21.1. J Med Genet 39:714–717

    Article  PubMed  CAS  Google Scholar 

  • Tomb R, Soutou B, Zalloua P (2009) Dysplasie ectodermique anhidrotique familiale: une mutation rare du gène EDA1. Anhidrotic ectodermal dysplasia. Report of a rare mutation in EDA1. Ann Dermatol Vénéréol 136:28–31

    Article  PubMed  CAS  Google Scholar 

  • Traboulsi EI, Nasr AM, Fahd SD, Jabbour NM, Der Kaloustian VM (1984) Waardenburg’s recessive anophthalmia syndrome. Ophthalmic Paediatr Genet 4:13–18

    Article  PubMed  CAS  Google Scholar 

  • Traboulsi EI, Azar DT, Jarudi N, Der Kaloustian VM (1985a) Ocular findings in the candidiasis-endocrinopathy syndrome. Am J Ophthalmol 99:486–487

    PubMed  CAS  Google Scholar 

  • Traboulsi EI, el-Baba F, Barakat AY, Faris BM (1985b) The retinopathy of primary hyperoxaluria. Retina 5:151–153

    Article  PubMed  CAS  Google Scholar 

  • Traboulsi EI, Faris BM, Der Kaloustian VM (1986a) Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. Am J Med Genet 24:95–100

    Article  PubMed  CAS  Google Scholar 

  • Traboulsi EI, Jurdi-Nuwayhid F, Frangieh GT, Der Kaloustian VM (1986b) Retinoblastoma in Lebanon. Ophthalmic Paediatr Genet 7:29–34

    Article  PubMed  CAS  Google Scholar 

  • Trioche P, Francoual J, Chalas J, Capel L, Bernard O, Labrune P (1999) Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in Brief #256. Online. Hum Mutat 14:91

    Article  PubMed  CAS  Google Scholar 

  • Trop I, Kaplan F, Brown C, Mahuran D, Hechtman P (1992) A gly 250-to-asp substitution in the α-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. Hum Mutat 1:35–39

    Article  PubMed  CAS  Google Scholar 

  • Usanga EA, Ameen R (2000) Glucose-6-phosphate dehydrogenase deficiency in Kuwait, Syria, Egypt, Iran, Jordan and Lebanon. Hum Hered 50:158–161

    Article  PubMed  CAS  Google Scholar 

  • Vincenti F, Hajjar ET, Salti IS (1973): Tumerous hyperparathyroidism in hypophosphatemic vitamin D-resistant rickets. J Med Liban 26:583–594

    PubMed  CAS  Google Scholar 

  • Vulliamy TJ, D’Urso M, Battistuzzi G, Estrada M, Foulkes NS, Martini G, Calabro V, Poggi V, Giordano R, Town M, Luzzatto L, Persico MG (1988) Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc Natl Acad Sci USA 85:5171–5175

    Article  PubMed  CAS  Google Scholar 

  • Wiles CR, Taylor TF, Sillence DO (1992) Congenital synspondylism. Am J Med Genet 42:288–95

    Article  PubMed  CAS  Google Scholar 

  • Wynnes-Davies R, Hall C, Ansell BM (1982) Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: a ‘new’ disorder of autosomal recessive inheritance. J Bone Joint Surg 64B:442–443

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Yehya A, Souki R, Bitar F, Nemer G (2006) Differential duplication of an intronic region in the NFATC1 gene in patients with congenital heart disease. Genome 49:1092–1098

    Article  PubMed  CAS  Google Scholar 

  • Yunis K, Ghina M, Bitar F, Chamseddine F, Kassar M, Rashkidi J, Ghaith M, Tamim H (2006) Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period. Am J Med Genet 140A:1524–1530

    Article  Google Scholar 

  • Zaatari GS, Otrock ZK, Sabbagh AS, Mahfouz RAR (2006) Prevalence of factor V R2 (H1299R) polymorphism in the Lebanese population. Pathology 38:442–444

    Article  PubMed  CAS  Google Scholar 

  • Zahed L, Bou-Dames J (1997) Acceptance of first-trimester prenatal diagnosis for the haemoglobinopathies in Lebanon. Prenat Diagn 17:423–428

    Article  PubMed  CAS  Google Scholar 

  • Zahed L, Talhouk R, Saleh M, Abou-Jaoudeh R, Fisher C, Old J (1997) The spectrum of β-thalassemia mutations in the Lebanon. Hum Hered 47:241–249

    Article  PubMed  CAS  Google Scholar 

  • Zahed L, Quatanani M, Nabulsi M, Taher A (2000) β-thalassemia mutations and haplotype analysis in Lebanon. Hemoglobin 24:269–276

    Article  PubMed  CAS  Google Scholar 

  • Zahed L, Demont J, Bouhass R, Trabuchet G, Hänni C, Zalloua P, Perrin P (2002): Origin and history of the IVS-I-110 and codon 39 beta-thalassemia mutations in the Lebanese population. Hum Biol 74:837–84

    Article  PubMed  Google Scholar 

  • Zahed L, Zahreddine H, Noureddine B, Rebeiz N, Shakar N, Zalloua P, Haddad F (2005) Molecular basis of oculocutaneous albinism type ! in Lebanese patients. J Hum Genet 50:317–319

    Article  PubMed  CAS  Google Scholar 

  • Zahed L, Pramparo T, Farra C, Mikati M, Zuffardi O (2007) A patient with duplication (7)(p22.1pter) characterized by array-CGH. Am J Med Genet 143A:168–171

    Article  Google Scholar 

  • Zalloua PA, Aoun E, Koussa S, Asfahani WS, Taher A (2003) The codons 8/9(+G) mutation found for the first time in the Lebanese population. Hemoglobin 27:1–5

    Article  PubMed  CAS  Google Scholar 

  • Zalloua PA, Platt DE, El Sibai M, Khalife J, Makhoul N, Haber M, Xue Y, Izaabel H, Bosch E, Adams SM, Arroyo E, López-Parra AM, Aler M, Picornell A, Ramon M, Jobling MA, Comas D, Bertranpetit J, Wells RS, Tyler-Smith C, and the Genographic Consortium (2008a) Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean. Am J Hum Genet 83:633–642

    Article  PubMed  CAS  Google Scholar 

  • Zalloua PA, Xue Y, Khalife J, Makhoul N, Debiane L, Platt DE, Royyuru AK, Herrera RJ, Soria Hernanz DF, Blue-Smith J, Wells RS, Comas D, Bertranpetit J, Tyler-Smith C, Zalloua PA, Xue Y, Khalife J, Makhoul N, Debiane L, Platt DE, Royyuru AK, Herrera RJ, Soria Hernanz DF, Blue-Smith J, Wells RS, Comas D, Bertranpetit J, Tyler-Smith C, and the Genographic Consortium (2008b) Y-chromosomal diversity in Lebanon is structured by recent historical events. Am J Hum Genet 82:873–882

    Article  PubMed  CAS  Google Scholar 

  • Zaynoun ST, Kurban AK (1974) Lipoid proteinosis. J Med Liban 90:85–90

    CAS  Google Scholar 

  • Zirbel GM, Ruttum MS, Post AC, Esterly NB (1995) Odonto-onycho-dermal dysplasia. Br J Dermatol 133:797–800

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. McGill University, Montreal, Quebec, Canada

    Vazken M. Der Kaloustian (Emeritus Professor of Pediatrics and Human Genetics)

Authors
  1. Vazken M. Der Kaloustian
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Vazken M. Der Kaloustian .

Editor information

Editors and Affiliations

  1. Qatar Foundation, Weill Cornell Medical College in Qatar, Doha, Qatar

    Ahmad S. Teebi

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Der Kaloustian, V.M. (2010). Genetic Disorders in Lebanon. In: Teebi, A. (eds) Genetic Disorders Among Arab Populations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-05080-0_13

Download citation

Publish with us

Policies and ethics

Search

Navigation