Abstract
Congenital hydrocephalus (CH) represents one of the most common congenital defects, with an incidence of 4.65 per 10,000 live-born neonates. It is estimated that about 40% of all congenital cases recognize a possible genetic etiology with few genetic forms of non-syndromic, isolated CH described today. On the other hand, thousands of genetic diseases including chromosomal aberration, monogenic disorders, associations, and methylation disorders can cause it. The wide range of genetic diseases associated with pediatric hydrocephalus reflects the high number of genes and pathways related to its pathophysiology, some of which are overlapping. Moreover next-generation sequencing and animal models are enriching knowledge, continuously broadening the number of molecular mechanisms involved into cerebrospinal fluid flux and hydrocephalus pathogenesis. This chapter focuses on genetic diseases that can be associated with hydrocephalus in children offering to reader elements for a proper clinical approach and genetic counseling.
References
Adle-Biassette H, Saugier-Veber P, Fallet-Bianco C et al (2013) Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of un- known molecular bases. Acta Neuropathol 126:427–442
Al-Dosari MS, Al-Owain M, Tulbah M et al (2013) Mutation in MPDZ causes severe congenital hydrocephalus. J Med Genet 50:54–58
Aolad HM, Inouye M, Darmanto W et al (2000) Hydrocephalus in mice following X-irradiation at early gestational stage: possibly due to persistent deceleration of cell proliferation. J Radiat Res (Tokyo) 41:213–226
Asthagiri AR, Parry DM, Butman JA et al (2009) Neurofibromatosis type 2. Lancet 373:1974–1986
Barker AR, Thomas R, Dawe HR (2014) Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis 10:96–107
Barresi R, Campbell KP (2006) Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 119:199–207
Baser ME, Friedman JM, Aeschliman D et al (2002) Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet 71:715–723
Baser ME, Kuramoto L, Joe H et al (2004) Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. Am J Hum Genet 75:231–239
Baser ME, Kuramoto L, Woods R et al (2005) The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. J Med Genet 42:540–546
Baser ME, Friedman JM, Joe H et al (2011) Empirical development of improved diagnostic criteria for neurofibromatosis 2. Genet Med 13:576–581
Bay C, Kerzin L, Hall BD (1979) Recurrence risk in hydrocephalus. Birth Defects Orig Artic Ser 15:95–105
Bayri Y, Soylemez B, Seker A et al (2015) Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31. Childs Nerv Syst 31:1367–1370
Becamel C, Figge A, Poliak S et al (2001) Interaction of serotonin 5-hydroxytryptamine type 2C receptors with PDZ10 of the multi-PDZ domain protein MUPP1. J Biol Chem 276:12974–12982
Bianchine JW, Lewis RC Jr (1974) The MASA syndrome: a new heritable mental retardation syndrome. Clin Genet 5:298–306
Bott L, Boute O, Mention K, Vinchon M et al (2004) Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of Sylvius. Am J Med Genet 130A:84–87
Bowen P (1974) Achondroplasia in two sisters with normal parents. Birth Defects Orig Artic Ser 10(12):31–36
Burton BK (1979a) Empiric recurrence risks for congenital hydrocephalus. Birth Defects Orig Artic Ser 15: 107–115
Burton BK (1979b) Recurrence risks for congenital hydrocephalus. Clin Genet 16:47–53
Buysse K, Riemersma M, Powell G et al (2013) Missense mutations in beta-1,3- N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet 22:1746–1754
Cacciagli P, Desvignes JP, Girard N et al (2014) AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet 22:363–368
Cappuccio G, Pinelli M, Torella A (2017) An extremely severe phenotype attributed to WDR81 nonsense mutations. Ann Neurol 82:650–651
Chae TH, Kim S, Marz KE et al (2004) The hyh mutation uncovers roles for alpha snap in apical protein localization and control of neural cell fate. Nat Genet 36:264–270
Chen H (2012) Atlas of genetic diagnosis and counseling. Humana Press, Totowa
Chitayat D, Moore L, Del Bigio MR et al (1994) Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome? Am J Med Genet 52:406–415
Choi JW, Lee JY, Phi JH, Wang KC, Chung HT, Paek SH, Kim DG, Park SH, Kim SK (2014) Clinical course of vestibular schwannoma in pediatric neurofibromatosis type 2. J Neurosurg Pediatr 13(6):650–657
Cinalli G, Sainte-Rose C, Kollar EM et al (1998) Hydrocephalus and craniosynostosis. J Neurosurg 88: 209–214
Collmann H, Sorensen N, Krauss J (2005) Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 21: 902–912
Copp A, Greene ND (2010) Genetics and development of neural tube defects. J Pathol 220:217–230
Cuevas E, Rybak-Wolf A, Rohde AM et al (2015) Lin41/Trim71 is essential for mouse development and specifically ex- pressed in postnatal ependymal cells of the brain. Front Cell Dev Biol 3:20
Dabora SL, Jozwiak S, Franz DN et al (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68:64–80
Dahme M, Bartsch U, Martini R, Anliker B, Schachner M, Mantei N (1997) Disruption of the mouse L1 gene leads to malformations of the nervous system. Nat Genet 17(3):346–349
De Angelis E, Watkins A, Schafer M et al (2002) Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. Hum Mol Genet 11:1–12
Dessaud E, Yang LL, Hill K et al (2007) Interpretation of the sonic hedgehog morphogen gradient by a temporal adaptation mechanism. Nature 450:717–720
Demyanenko GP, Tsai AY, Maness PF (1999) Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice. J Neurosci 19(12):4907–4920
DeMyer WE, Zeman W (1963) Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol 23:1–36
Drielsma A, Jalas C, Simonis N et al (2012) Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. J Med Genet 49:708–712
Ecsedi M, Grosshans H (2013) LIN-41/TRIM71: emancipation of a miRNA target. Genes Dev 27:581–589
Ekici AB, Hilfinger D, Jatzwauk M et al (2010) Disturbed Wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum. Mol Syndromol 1:99–112
Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Strachan T, Harris R (1992) A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet 29(12):847–852
Evans DG, Sainio M, Baser ME (2000) Neurofibromatosis type 2. J Med Genet 37:897–904
Farschtschi S, Merker VL, Wolf D et al (2016) Bevacizumab treatment for symptomatic spinal ependymomas in neurofibromatosis type 2. Acta Neurol Scand 133:475–480
Ferese R, Zampatti S, Griguoli AM et al (2016) A new splicing mutation in the L1CAM gene responsible for X-linked hydrocephalus (HSAS). J Mol Neurosci 59:376–381
Ferner RE, Gutmann DH (2002) International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res 62:1573–1577
Ferner RE, Huson SM, Thomas N et al (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44:81–88
Eggenschwiler JT, Anderson KV (2007) Cilia and developmental signaling. Annu Rev Cell Dev Biol 23:345–373
Forzano F, Mansour S, Ierullo A et al (2007) Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature. Prenat Diagn 27:495–501
Fransen E, Lemmon V, Van Camp G et al (1995) CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet 3:273–284
Ericson J, Morton S, Kawakami A, Roelink H, Jessell TM (1996) Two critical periods of Sonic hedgehog signaling required for the specification of motor neuron identity. Cell 87:661–673
Euskirchen G, Auerbach RK, Snyder M (2012) SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse functions. J Biol Chem 287:30897–30905
Garne E, Loane M, Addor MC et al (2010) Congenital hydrocephalus – prevalence, prenatal diagnosis and outcome of pregnancy in four European regions. Eur J Paediatr Neurol 14:150–155
Geis T, Marquard K, Rodl T et al (2013) Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics 14:205–213
Gezer C, Ekin A, Ozeren M et al (2014) Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly. J Obstet Gynaecol 34:387–391
Godfrey C, Foley AR, Clement E et al (2011) Dystroglycanopathies: coming into focus. Curr Opin Genet Dev 21:278–285
Goetzinger KR, Stamilio DM, Dicke JM et al (2008) Evaluating the incidence and likelihood ratios for chromosomal abnormalities in fetuses with common central nervous system malformations. Am J Obstet Gynecol 199:285.e1–285.e6
Gonseth S, Roy R, Houseman EA, de Smith AJ et al (2015) Periconceptional folate consumption is associated with neonatal DNA methylation modifications in neural crest regulatory and cancer development genes. Epigenetics 10:1166–1176
Graham E, Duhl A, Ural S, Allen M, Blakemore K, Witter F (2001) The degree of antenatal ventriculomegaly is related to pediatric neurological morbidity. J Matern Fetal Med 10(4):258–263
Greene ND, Copp AJ (2009) Development of the vertebrate central nervous system: formation of the neural tube. Prenat Diagn 29:303–311
Greene ND, Stanier P, Moore GE (2011) The emerging role of epigenetic mechanisms in the etiology of neural tube defects. Epigenetics 6:875–883
Grill J, Laithier V, Rodriguez D et al (2000) When do children with optic pathway tumours need treatment? An oncological perspective in 106 patients treated in a single Centre. Eur J Pediatr 159:692–696
Guibaud L, Larroque A, Ville D et al (2012) Prenatal diagnosis of ‘isolated’ Dandy-Walker malformation: imaging findings and prenatal counselling. Prenat Diagn 32:185–193
Gulsuner S, Tekinay AB, Doerschner K et al (2011) Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res 21:1995–2003
Hahn H, Wicking C, Zaphiropoulous PG et al (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841–851
Harmacek L, Watkins-Chow DE, Chen J et al (2014) A unique missense allele of BAF155, a core BAF chromatin remodeling complex protein, causes neural tube closure defects in mice. Dev Neurobiol 74:483–497
Hall JG, Solehdin F (1998) Genetics of neural tube defects. Ment Retard Dev Disabil Res Rev 4:269–281
Han C, Yang WZ, Zhang HT et al (2015) Clinical characteristics and long-term outcomes of moyamoya syndrome associated with neurofibromatosis type 1. J Clin Neurosci 22:286–290
Haverkamp F, Wolfle J, Aretz M et al (1999) Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling. Eur J Pediatr 158:474–478
Hecht JT, Francomano CA, Horton WA et al (1987) Mortality in achondroplasia. Am J Hum Genet 41:454–464
Hikasa H, Sekido Y, Suzuki A (2016) Merlin/NF2-Lin28B-let-7 is a tumor-suppressive pathway that is cell-density dependent and hippo independent. Cell Rep 14:2950–2961
Hirbe AC, Gutmann DH (2014) Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 13:834–843
Holden ST, Cox JJ, Kesterton I et al (2006) Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. J Med Genet 43:750–754
Holmes GL, Stafstrom CE, Tuberous Sclerosis Study Group (2007) Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia 48:617–630
Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M (2012) Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum Mutat 33(3):476–479
Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M (2013) Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Hum Mutat 34(1):167–175
Huson SM, Acosta MT, Belzberg AJ et al (2010) Back to the future: proceedings from the 2010 NF conference. Am J Med Genet A 155:307–321
Ibanez-Tallon I, Pagenstecher A, Fliegauf M et al (2004) Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Hum Mol Genet 13:2133–2141
Joubert BR, den Dekker HT, Felix JF et al (2016) Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns. Nat Commun 7:10577
Jóźwiak S, Nabbout R, Curatolo P et al (2013) Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol 17: 348–352
Khoshnood B, Loane M, de Walle H et al (2015) Long term trends in prevalence of neural tube defects in Europe: population based study. BMJ 351:h5949
Kibar Z, Vogan KJ, Groulx N et al (2001) Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant loop-tail. Nat Genet 28:251–255
Kibar Z, Torban E, McDearmid JR et al (2007) Mutations in VANGL1 associated with neural-tube defects. N Engl J Med 356:1432–1437
Kibar Z, Bosoi CM, Kooistra M et al (2009) Novel mutations in VANGL1 in neural tube defects. Hum Mutat 30:E706–E715
Kibar Z, Salem S, Bosoi CM et al (2011) Contribution of VANGL2 mutations to isolated neural tube defects. Clin Genet 80:76–82
Kielar M, Tuy FPD, Bizzotto S et al (2014) Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. Nat Neurosci 17:923–933
Kim JK, Huh SO, Choi H et al (2001) Srg3, a mouse homolog of yeast SWI3, is essential for early embryogenesis and involved in brain development. Mol Cell Biol 21:7787–7795
Klezovitch O, Fernandez TE, Tapscott SJ et al (2004) Loss of cell polarity causes severe brain dysplasia in Lgl1 knockout mice. Genes Dev 18:559–571
Kolble N, Wisser J, Kurmanavicius J et al (2000) Dandy-Walker malformation: prenatal diagnosis and outcome. Prenat Diagn 20:318–327
Koontz NA, Wiens AL, Agarwal A et al (2013) Schwannomatosis: the overlooked neurofibromatosis? AJR Am J Roentgenol 200:W646–W653
Korf BR (2000) Malignancy in neurofibromatosis type 1. Oncologist 5(6):477–485
Korf BR (2001) Diagnosis and management of neurofibromatosis type 1. Curr Neurol Neurosci Rep 1:162–167
Kosaki K, Ikeda K, Miyakoshi K et al (2004) Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. Am J Med Genet 129A:308–311
Kousi M, Katsanis N (2016) The genetic basis of hydrocephalus. Annu Rev Neurosci 39:409–435
Lekic T, Klebe D, Poblete R et al (2015) Neonatal brain hemorrhage (NBH) of prematurity: translational mechanisms of the vascular-neural network. Curr Med Chem 22:1214–1238
Leshchyns’ka I, Sytnyk V (2016) Reciprocal interactions between cell adhesion molecules of the immunoglobulin superfamily and the cytoskeleton in neurons. Front Cell Dev Biol 4:9
Liu K, Jian Y, Sun X (2016) Negative regulation of phosphatidylinositol 3-phosphate levels in early-to-late endosome conversion. J Cell Biol 212:181–198
Logan CV, Abdel-Hamed Z, Johnson CA et al (2011) Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. Mol Neurobiol 43:12–26
Manzini MC, Tambunan DE, Hill RS et al (2012) Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 91:541–547
Mautner VF, Tatagiba M, Lindenau M, Fünsterer C, Pulst SM, Baser ME, Kluwe L, Zanella FE (1995) Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. AJR Am J Roentgenol 165(4):951–955
McAllister JP 2nd, Williams MA, Walker ML et al (2015) Hydrocephalus symposium expert panel. An update on research priorities in hydrocephalus: overview of the third National Institutes of Health-sponsored symposium “opportunities for hydrocephalus research: pathways to better outcomes”. J Neurosurg 123:1427–1438
Mitchell LE (2005) Epidemiology of neural tube defects. Am J Med Genet C Semin Med Genet 135C:88–94
Moavero R, Coniglio A, Garaci F et al (2013) Is mTOR inhibition a systemic treatment for tuberous sclerosis? Ital J Pediatr 39:57
Murray JC, Johnson JA, Bird TD (1985) Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks. Clin Genet 28:272–283
Narita K, Takeda S (2015) Cilia in the choroid plexus: their roles in hydrocephalus and beyond. Front Cell Neurosci 9:39
Narita K, Kawate T, Kakinuma N et al (2010) Multiple primary cilia modulate the fluid transcytosis in choroid plexus epithelium. Traffic 11:287–301
National Institutes of Health (1988) Consensus development conference: neurofibromatosis conference statement. Arch Neurol 45:575–578
Needham LK, Thelen K, Maness PF (2001) Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions. J Neurosci 21: 1490–1500
Newton R, Loughna SC, Stanier PM et al (1991) X-linked spina bifida: a linkage analysis. Miami short reports. In: Advances in gene technology: the molecular biology of human genetic disease, vol vol 1. IRL Press, New York, p 33
Nguyen DTT, Richter D, Michel G et al (2017) The ubiquitin ligase LIN41/TRIM71 targets p53 to antagonize cell death and differentiation pathways during stem cell differentiation. Cell Death Differ 24:1063–1078
Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group (2013) International tuberous sclerosis complex consensus group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 49: 243–254
Novarino G, Akizu N, Gleeson JG (2011) Modeling human disease in humans: the ciliopathies. Cell 147:70–79
Nunes FP, Merker VL, Jennings D et al (2013) Bevacizumab treatment for meningiomas in NF2: a retrospective analysis of 15 patients. PLoS One 8:e59941
Obeid R, Pietrzik K, Oakley GP Jr et al (2015) Preventable spina bifida and anencephaly in Europe. Birth Defects Res A Clin Mol Teratol 103:763–771
Ohata S, Nakatani J, Herranz-Pérez V, Cheng J, Belinson H, Inubushi T, Snider WD, García-Verdugo JM, Wynshaw-Boris A, Alvarez-Buylla A (2014) Loss of Dishevelleds disrupts planar polarity in ependymal motile cilia and results in hydrocephalus. Neuron 83(3):558–571. https://doi.org/10.1016/j.neuron.2014.06.022
Osenbach RK, Menezes AH (1992) Diagnosis and management of the Dandy-Walker malformation: 30 years of experience. Pediatr Neurosurg 18:179–189
Oshita A, Kishida S, Kobayashi H et al (2003) Identification and characterization of a novel Dvl-binding protein that suppresses Wnt signalling pathway. Genes Cells 8:1005–1017
Parker MJ, Budd JLS, Draper ES et al (2003) Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn 23:856–860
Philip N, Auger M, Mattei JF et al (1988) Achondroplasia in sibs of normal parents. J Med Genet 25:857–859
Plotkin SR, Stemmer-Rachamimov AO, Barker FG 2nd et al (2009) Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med 361:358–367
Plotkin SR, Merker VL, Halpin C et al (2012) Bevacizumab for progressive vestibular schwannoma in neurofibromatosis type 2: a retrospective review of 31 patients. Otol Neurotol 33:1046–1052
Purandare SM, Ware SM, Kwan KM et al (2002) A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development 129:2293–2302
Raam MS, Solomon BD, Muenke M (2011) Holoprosencephaly: a guide to diagnosis and clinical management. Indian Pediatr 48:457–466
Radtke HB, Sebold CD, Allison C et al (2007) Neurofibromatosis type 1 in genetic counseling practice: recommendations of the national society of genetic counselors. J Genet Couns 16:387–407
Rasmussen SA, Wong LY, Yang Q et al (2003) Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 111:777–784
Reardon W, Zhou XP, Eng C (2001) A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. J Med Genet 38:820–823
Rendtorff ND, Bjerregaard B, Frödin M et al (2005) Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. Hum Mutat 26:374–383
Roscioli T, Kamsteeg EJ, Buysse K et al (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of a-dystroglycan. Nat Genet 44:581–585
Rosenthal A, Joulet M, Kenwrick S (1992) Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nat Genet 2:107–112. Note: Erratum: Nature Genet 3:273 only, 1993
Ruggieri M (1999) The different forms of neurofibromatosis. Childs Nerv Syst 15:295–308
Ruggieri M, Praticò AD, Evans DG (2015) Diagnosis, management, and new therapeutic options in childhood Neurofibromatosis type 2 and related forms. Semin Pediatr Neurol 22:240–258
Sakata-Haga H, Sawada K, Ohnishi T et al (2004) Hydrocephalus following prenatal exposure to ethanol. Acta Neuropathol (Berl) 108:393–398
Salonen R, Norio R (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet 18(4):691–698
Salonen R, Herva R, Norio R (1981) The hydrolethalus syndrome: delineation of a ‘new’ lethal malformation syndrome, based on 28 patients. Clin Genet 19: 321–330
Santoro C, Maietta A, Giugliano T et al (2015) Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1. Eur J Hum Genet 23:1460–1461
Schrander-Stumpel C, Fryns JP (1998) Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling. Eur J Pediatr 157:355–362
Seo JH, Zilber Y, Babayeva S et al (2011) Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. Hum Mol Genet 20:4324–4333
Sgulò FG, Spennato P, Aliberti F et al (2017) Contemporary occurrence of hydrocephalus and Chiari I malformation in sagittal craniosynostosis. Case report and review of the literature. Childs Nerv Syst 33:187–192
Shikata Y, Okada T, Hashimoto M et al (2011) Ptch1-mediated dosage-dependent action of Shh signaling regulates neural progenitor development at late gestational stages. Dev Biol 349:147–159
Simmons K, Hashmi SS, Scheuerle A et al (2014) Mortality in babies with achondroplasia: revisited. Birth Defects Res A Clin Mol Teratol 100:247–249
Solomon BD (2011) VACTERL/VATER association. Orphanet J Rare Dis 6:56
Stevens E, Carss KJ, Cirak S et al (2013) Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. Am J Hum Genet 92:354–365
Stevenson DA, Schill L, Schoyer L et al (2016) The fourth international symposium on genetic disorders of the Ras/MAPK pathway. Am J Med Genet A 170: 1959–1966
Stoll C, Alembik Y, Dott B et al (1992) An epidemiologic study of environmental and genetic factors in congenital hydrocephalus. Eur J Epidemiol 8:797–803
Sun L, Wu Q, Jiang SW et al (2015) Prenatal diagnosis of central nervous system anomalies by high-resolution chromosomal microarray analysis. Biomed Res Int 2015:426379
Svard J, Rozell B, Toftgard R, Teglund S (2009) Tumor suppressor gene co-operativity in compound Patched1 and suppressor of fused heterozygous mutant mice. Mol Carcinog 48:408–419
Szudek J, Birch P, Friedman JM (2000) Growth charts for young children with neurofibromatosis 1 (NF1). Am J Med Genet 92:224–228
Tarpey PS, Stevens C, Teague J et al (2006) Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet 79:1119–1124
Thelen K, Kedar V, Panicker AK et al (2002) The neural cell adhesion molecule L1 potentiates integrin-dependent cell migration to extracellular matrix proteins. J Neurosci 22:4918–3491
Toriello HV (1984) Report of a third kindred with X-linked anencephaly/spina bifida. (Letter). Am J Med Genet 19:411–412
Tort J, Lelong N, Prunet C et al (2013) Maternal and health care determinants of preconceptional use of folic acid supplementation in France: results from the 2010 National Perinatal Survey. BJOG 120:1661–1667
Trotter TL, Hall JG (2005) American Academy of Pediatrics Committee on Genetics Health supervision for children with achondroplasia. Pediatrics 116:771–783
Tsoi H, Yu AC, Chen ZS et al (2014) A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J Med Genet 51:590–595
Tsunoda I, McCright IJ, Kuang LQ et al (1997) Hydrocephalus in mice infected with a Theiler’s murine encephalomyelitis virus variant. J Neuro-Oncol 56: 1302–1313
Tüzel E, Samli H, Kuru I et al (2007) Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. Urology 70:161–164
Ullrich NJ (2015) Neurocutaneous syndromes and brain tumors. J Child Neurol 31:1399–1411
von Renesse A, Petkova MV, Lutzkendorf S et al (2014) POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. J Med Genet 51:275–282
Vos YJ, Hofstra RM (2010) An updated and upgraded L1CAM mutation database. Hum Mutat 31(1):E1102–E1109. https://doi.org/10.1002/humu.21172
Vos YJ, de Walle HE, Bos KK et al (2010) Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. J Med Genet 47:169–175
Waller DK, Correa A, Vo TM et al (2008) The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A 146A:2385–2389
Wang T, Liu Y, Xu XH et al (2011) Lgl1 activation of rab10 promotes axonal membrane trafficking underlying neuronal polarization. Dev Cell 21:431–444
Webster MK, Donoghue DJ (1996) Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J 15:520–527
Weller S, Gartner J (2001) Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): mutations in the L1CAM gene. Hum Mutat 18:1–12
Wetmore C, Eberhart DE, Curran T (2000) The normal patched allele is expressed in medulloblastomas from mice with heterozygous germ-line mutation of patched. Cancer Res 60:2239–2246
Witters I, Fryns JP (2008) Trisomy 18 presenting with severe limb deformations. Prenat Diagn 28:549–550
Yamakasi M, Thompson P, Lemmon V (1997) CRASH syndrome: mutations in L1CAM correlate with severity of the disease. Neuropediatrics 28:175–178
Yamamoto GL, Aguena M, Gos M et al (2015) Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet 52:413–421
Yamasaki M, Kanemura Y (2015) Molecular biology of pediatric hydrocephalus and hydrocephalus-related diseases. Neurol Med Chir (Tokyo) 55:640–646
Zhang J, Williams MA, Rigamonti D (2006) Genetics of human hydrocephalus. J Neurol 253:1255–1266
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Santoro, C. (2019). Genetics of Human Hydrocephalus. In: Cinalli, G., Ozek, M., Sainte-Rose, C. (eds) Pediatric Hydrocephalus. Springer, Cham. https://doi.org/10.1007/978-3-319-31889-9_1-2
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DOI: https://doi.org/10.1007/978-3-319-31889-9_1-2
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Latest
Genetics of Human Hydrocephalus- Published:
- 13 December 2018
DOI: https://doi.org/10.1007/978-3-319-31889-9_1-2
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Original
Genetics of Human Hydrocephalus- Published:
- 20 September 2018
DOI: https://doi.org/10.1007/978-3-319-31889-9_1-1