Molecular genetics in fetal neurology

Seminars in Fetal and Neonatal Medicine

Volumn 17, Issue 6, 2012, Pages 341-346

  Huang, Jin ^a   Wah, Isabella Y M ^a   Pooh, Ritsuko K ^b   Choy, Kwong Wai ^a,c  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b Clinical Research Institute of Fetal Medicine PMC   (Japan)

^c CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Agenesis of the corpus callosum; Genetics; Holoprosencephaly; Lissencephaly; Microarray

Indexed keywords

ALPHA TUBULIN; DOUBLECORTIN; FOXH1 PROTEIN; PROTEIN; PROTEIN NODAL; SHH PROTEIN; TGIF1 PROTEIN; TRANSCRIPTION FACTOR SIX3; UNCLASSIFIED DRUG; ZIC2 PROTEIN;

AGYRIA; BRAIN MALFORMATION; CHROMOSOME ABERRATION; COBBLESTONE LISSENCEPHALY; CORPUS CALLOSUM AGENESIS; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOLOPROSENCEPHALY; HUMAN; MOLECULAR GENETICS; NEUROLOGY; PALLISTER HALL SYNDROME; PRENATAL DIAGNOSIS; REVIEW; SMITH LEMLI OPITZ SYNDROME; VELOCARDIOFACIAL SYNDROME;

ABNORMALITIES, MULTIPLE; CENTRAL NERVOUS SYSTEM; DIAGNOSIS, DIFFERENTIAL; FEMALE; FETAL DEVELOPMENT; FETAL DISEASES; GENETIC ASSOCIATION STUDIES; GENOMICS; HUMANS; MAGNETIC RESONANCE IMAGING; MOLECULAR BIOLOGY; NERVOUS SYSTEM DISEASES; NEUROLOGY; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84868301723     PISSN: 1744165X     EISSN: 18780946     Source Type: Journal    
DOI: 10.1016/j.siny.2012.07.007     Document Type: Review

References (56)

1. Bendavid C., Rochard L., Dubourg C., et al. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci. Hum Mutat 2009, 30:1175-1182.
2. GeneReviews 1993, Seattle (WA): University of Washington, Seattle. R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.).
3. Cohen M.M., Sulik K.K. Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofac Genet Dev Biol 1992, 12:196-244.
4. Croen L.A., Shaw G.M., Lammer E.J. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 1996, 64:465-472.
5. Olsen C.L., Hughes J.P., Youngblood L.G., et al. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children. New York State, 1984-1989. Am J Med Genet 1997, 73:217-226.
6. Bellone S., De Rienzo F., Prodam F., et al. Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside. Panminerva Med 2010, 52:345-354.
7. Solomon B.D., Rosenbaum K.N., Meck J.M., et al. Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet 2010, 154C:146-148.
8. Jobanputra V., Burke A., Kwame A.Y., et al. Duplication of the ZIC2 gene is not associated with holoprosencephaly. Am J Med Genet A 2011 Nov 21, [Epub ahead of print]. 10.1002/ajmg.a.34375.
9. Pineda-Alvarez D., Dubourg C., David V., et al. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet 2010, 154C:93-101.
10. Chen C.P., Wang T.H., Lin C.C., et al. Prenatal diagnosis of partial trisomy 3p (3p21→pter) and partial monosomy 11q (11q23→qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system. J Formos Med Assoc 2008, 107:822-826.
11. Campeau P.M., Ah Mew N., Cartier L., et al. Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature. Am J Med Genet A 2008, 146A:3062.
12. Kanafani S., Aboura A., Pipiras E., et al. Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype. Prenat Diagn 2007, 27:279-284.
13. Rosenfeld J.A., Ballif B.C., Martin D.M., et al. Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Hum Genet 2010, 127:421-440.
14. Cohen M.M. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology 1989, 40:211-235.
15. Roessler E., Muenke M. The molecular genetics of holoprosencephaly. Am J Med Genet C Semin Med Genet 2010, 154:52-61.
16. Kamnasaran D., Chen C.P., Devriendt K., et al. Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. Genomics 2005, 85:608-621.
17. Verrotti A., Spalice A., Ursitti F., et al. New trends in neuronal migration disorders. Eur J Paediatr Neurol 2010, 14:1-12.
18. Forman M.S., Squier W., Dobyns W.B., et al. Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol 2005, 64:847-857.
19. Pilz D.T., Matsumoto N., Minnerath S., et al. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 1998, 7:2029-2037.
20. Morris-Rosendahl D.J., Najm J., Lachmeijer A.M., et al. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clin Genet 2008, 74:425-433.
21. Yingling J., Youn Y.H., Darling D., et al. Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division. Cell 2008, 132:474-486.
22. Dobyns W.B., Curry C.J., Hoyme H.E., et al. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet 1991, 48:584-594.
23. Toyooka K., Shionoya A., Gambello M.J., et al. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet 2003, 34:274-285.
24. Kuwano A., Ledbetter S.A., Dobyns W.B., et al. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet 1991, 49:707-714.
25. Francis F., Meyer G., Fallet-Bianco C., et al. Human disorders of cortical development: from past to present. Eur J Neurosci. 2006, 23:877-893.
26. Keays D.A., Tian G., Poirier K., et al. Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell 2007, 128:45-57.
27. Bahi-Buisson N., Poirier K., Boddaert N., et al. Refinement of cortical dysgenesis spectrum associated with TUBA1A mutations. J Med Genet 2008, 45:647-653.
28. Kato M., Dobyns W.B. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003, 12(1):89-96.
29. Bonneau D., Toutain A., Laquerriere A., et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol 2002, 51:340-349.
30. Hong S.E., Shugart Y.Y., Huang D.T., et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000, 26:93-96.
31. Hack I., Hellwig S., Junghans D., et al. Divergent roles of ApoER2 and Vldlr in the migration of cortical neurons. Development 2007, 134:3883-3891.
32. Lynn R.B., Buchanan D.C., Fenichel G.M., et al. Agenesis of the corpus callosum. Arch Neurol 1980, 37:444-445.
33. Volpe P., Campobasso G., De Robertis V., et al. Disorders of prosencephalic development. Prenat Diagn 2009, 29:340-354.
34. Dobyns W.B. Absence makes the search grow longer. Am J Hum Genet 1996, 58:7-16.
35. Ballif B.C., Rosenfeld J.A., Traylor R., et al. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet 2012, 131:145-156.
36. Becker K.G., Lee I.J., Nagle J.W., et al. C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. Int J Dev Neurosci 1997, 15:891-899.
37. Choy K.W., To K.F., Chan A.W.H., et al. Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing. Obstet Gynecol 2010, 115:462-465.
38. Sotiriadis A., Makrydimas G. Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. Am J Obstet Gynecol 2011 Dec 27, [Epub ahead of print].
39. Solomon B.D., Lacbawan F., Mercier S., et al. Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2-specific phenotype and comprehensive analysis of 157 individuals. J Med Genet 2010, 47:513-524.
40. Solomon B.D., Mercier S., Vélez J.I., et al. Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet 2010, 154C:133-141.
41. Mercier S., Dubourg C., Garcelon N., et al. New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet 2011 Sep 22, [Epub ahead of print].
42. Koolen D.A., Herbergs J., Veltman J.A., et al. Holoprosencephaly and preaxial polydactyly associated with a 1.24Mb duplication encompassing FBXW11 at 5q35.1. J Hum Genet 2006, 51:721-726.
43. Johnston J.J., Olivos-Glander I., Killoran C., et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005, 76:609-622.
44. Yu H., Tint G.S., Salen G., et al. Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-1G-C is found in over sixty percent of US propositi. Am J Med Genet 2000, 90:347-350.
45. Paylor R., Glaser B., Mupo A., et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci USA 2006, 103:7729-7746.
46. Cormand B., Pihko H., Bayes M., et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 2001, 56:1059-1069.
47. van Reeuwijk J., Janssen M., van den Elzen C., et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 2005, 42:907-912.
48. Mercuri E., Messina S., Bruno C., et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009, 72:1802-1809.
49. Clarke N.F., Maugenre S., Vandebrouck A., et al. Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. Eur J Hum Genet 2011, 19:452-457.
50. Michele D.E., Barresi R., Kanagawa M., et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002, 418:417-422.
51. Putoux A., Thomas S., Coene K.L., et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 2011, 43:601-606.
52. Medina C.F., Mazerolle C., Wang Y., et al. Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome. Hum Mol Genet 2009, 18:966-977.
53. Howard H.C., Mount D.B., Rochefort D., et al. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet 2002, 32:384-392.
54. Graham J.M., Wheeler P., Tackels-Horne D., et al. A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the alpha 4 gene at Xq13. Am J Med Genet 2003, 123:37-44.
55. Dahme M., Bartsch U., Martini R., et al. Disruption of the mouse L1 gene leads to malformations of the nervous system in mice. Nat Genet 1997, 17:346-349.
56. So J., Suckow V., Kijas Z., et al. Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet 2005, 132:1-7.