Genetics of neural tube defects

Mental Retardation and Developmental Disabilities Research Reviews

Volumn 4, Issue 4, 1998, Pages 269-281

  Hall, Judith G ^a,b   Solehdin, Fatima ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BC CHILDREN S HOSPITAL   (Canada)

Author keywords

Chromosome; Folic acid; Genetics; Heritability; Multifactorial; Neural tube defects; Single gene; Teratogens

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALCOHOL; AMINOPTERIN; CARBAMAZEPINE; CLOMIFENE; FOLIC ACID; HERBICIDE; HOMOCYSTEINE; LEAD; METHYLENETETRAHYDROFOLIC ACID; ORGANIC SOLVENT; RETINOL; TERATOGENIC AGENT; VALPROIC ACID; WARFARIN;

ANENCEPHALUS; ARTICLE; CHROMOSOME DISORDER; ENCEPHALOCELE; ENVIRONMENTAL FACTOR; FOLIC ACID DEFICIENCY; GENE THERAPY; GENETICS; HUMAN; MATERNAL AGE; NEURAL TUBE DEFECT; PRIORITY JOURNAL; RECURRENCE RISK; SPINA BIFIDA; TWIN PREGNANCY; VITAMIN SUPPLEMENTATION;

EID: 0032408030     PISSN: 10804013     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2779(1998)4:4<269::AID-MRDD6>3.0.CO;2-8     Document Type: Article

References (114)

1. Bader PI, Haney SM, Munsick RA, et al. Brief clinical report: Neural tube defects in dupl Iq. AmJ Med Genet 1984:19:5-8.
2. Bick D, Markowitz RI, Hor\\-ich A. Trisomy 18 associated with ectopia cordis and occipital meningocele. AmJ Med Genet 1988;30:805-810.
3. Bjorke-Monsen AL, Ueland PM, Schneede J, et al. Elevated plasma total homocysteine and C677T mutation of the methylenetetrahydrofolate reductase gene in patients with spina bifida. Q J Med 1997;90:593-596.
4. Blatter BM, Roeleveld N. Spina bifida and parental occupation in a Swedish register-based study. ScandJ Work Environ Health 1996:22:433-437.
5. Blatter BM, Roelevald N, Zielhuis GA, et al. Spina bifida and parental occupation. Epidemiology 1996a;7:188-193.
6. Blatter BM, Roeleveld N, Zielhuis GA, et al. Maternal occupational exposure during pregnancy and the risk of spina bifida. Occup Environ Med 1996b;53:80-86.
7. Blatter BM, Hermans R, Bakker M, et al. Paternal occupational exposure around conception and spina bifida in offspring. Am J Ind Med 1997:32:283-291.
8. Bocklage CE. On the distribution of nonrighthandedness among twins and their families. Acta Genet Med Gemellol (Roma) 1981:30:167187.
9. Bound JP, Harvey PW, Francis BJ, et al. Involvement of deprivation and environmental lead in neural tube defects: a matched case-control study. Arch Dis Child 1997:76:107-112.
10. Brender JD, Suarez L. Parental occupation and anencephaly. AmJ Epidemiol 1990;131:517521.
11. Byme J, Cama A, Reilly M, et al. Multigenerational maternal transmission in Italian families with neural tube defects. Am J Med Genet 1996:66:303-310.
12. Byme J, Cama A, Vigliarolo M, et al. Patterns of inheritance in Irish and Italian families with neural tube defects: comparison between high and low rate areas. Ir Med J 1997:90:32-34.
13. Carballo M, Simic S, Zeric D. Health in countries torn by conflict: Lessons from Sarajevo. Lancet 1996;348:872-874.
14. Carter CO, Evans K. Spina bifida and anencephalus in Greater London. J Med Genet 1973; 10:209234.
15. Cavdor AO. Maternal hair zinc concentration in neural tube defects in Turkey. Biol Trace Element Res 1991;30:81-85.
16. Cavdor AO, Bahceci M, Akar N, et al. Effect of zinc supplementation in a Turkish woman with two previous anencephalic infants. Gynecol Obstet Invest 1991;32:123-125.
17. Chance PF, Smith DW. Hyperthermia and meningomyelocele and anencephaly. Lancet 1978;i: 769-770.
18. Chatkupt S, Koenigsberger MR, Johnson WG. Parental sex effect in spina bifida: A role for genomic imprinting? Am J Med Genet 1992:44:508-512.
19. Chen CP, Liu FF, Jan SW, et al. Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocele in a fetus. Prenat Diagn 1996; 16:664-666.
20. Clarren SK. Neural tube defects and fetal alcohol syndrome. J Pediatr 1979;95:328-329.
21. Cordier S, Bergeret A, Goujard J, et al. Congenital malformations and maternal occupational exposure to glycol ethers. Epidemiology 1997;8: 355-363.
22. Czeizel AE, Dudas I. Prevention of the first occurrence of neural tube defects by pericon-ceptional vitamin supplementation. New Engl JMed 1992;327:1832-1835.
23. de Franchis R, Sebastio G, Mandato C, et al. Spina bifida, 677C->T mutation, and role of folate. Lancet 1995;346:1703.
24. Duff EMW, Cooper ES. Neural tube defects in Jamaica following Hurricane Gilbert. Am J Public Health 1994;84:473-476.
25. EUROCAT Working Group. Prevalence of neural tube defects in 20 regions of Europe and the impact of prenatal diagnosis, 1980-1986. J Epidemiol Community Health 1991;45: 52-58.
26. Farag TI, Teebi AS, Al-Awadi SA. Non-syndromal anencephaly: Possible autosomal recessive variant. Am J Med Genet 1986;24:461-464.
27. Field B, Kerr C. Herbicide use and incidence of neural-tube defects. Lancet 1979;i:13411342.
28. Fraser FC. Association of neural tube defects and parental non-righthandedness. Am J Hum Genet [Suppl] 1983;35:89.
29. Fraser FC, Hanson K. Neural cube defects in siblings of twins. Teratology [Suppl] 1984;29:29.
30. Friedman JM. Can maternal alcohol ingestion cause neural tube defects?] Pediatr 1982;101:232234.
31. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-113.
32. Fryns JP, Devriendt K, Moerman P. Lumbosacral spina bifida and myeloschisis in a female foetus with de novo X/autosomal translocation (t(X;22)(q27;q!21)). Genet Counseling 1996; 7:159-160.
33. Gal I. Mongoloid features with spina bifida. A preliminary communication. Dev Med Child Neural 1971;13:380-383.
34. Garabedian BH, Fraser FC. A familial association between twinning and upper-neural tube defects. Am J Hum Genet 1994;55:10501053.
35. Gardiki-Kouidou P, Seller MJ. Amniotic fluid folate, vitamin B12 and transcobalamins in neural tube defects. Clin Genet 1988;33:441448.
36. Gosden CM, Wright MO, Paterson WG, et al. Clinical details, cytogenetic studies, cellular physiology of a 69,XXX fetus, with comments on the biological effect of triploidy in man. J Med Genet 1976:13:371-380.
37. Goyette P, Sumner JS, Milos R, et al. Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification. Nat Genet 1984;7:195-200.
38. Greene NDE, Copp AJ. Inositol prevents folateresistant neural tube defects in the mouse. Nat Med 1997:3:60-66.
39. Guvenc H, Karatas F, Guvenc M, et al. Low levels of selenium in mothers and their newboms in pregnancies with a neural tube defect. Pediatrics 1995:95:879-882.
40. HaddowJE, Hill LE, Kloza EM, et al. Neural tube defects after gastric bypass. Lancet 1986;!: 1330.
41. Hall JG, Friedman JM, Kenna BA, et al. Clinical, genetic, and epidemiological factors in neural tube defects. Am J Hum Genet 1988;43:827837.
42. Hansen LM, Donnenfeld AE. Concordant anencephaly in monoamniotic twins and an analysis of maternal serum markers. Prenat Diagn 1997:17:471-473.
43. Harmon JP, Hiett AK, Palmer CG, et al. Prenatal ultrasound detection of isolated neural tube defects: Is cytogenetic evaluation warranted? Obstet Gvnecol 1995:86:595-599.
44. Hinks LJ, Ogilvy-Stuart A, Hambidge KM, et al. Maternal zinc and selenium status in pregnancies with a neural tube defect or elevated plasma alpha-fetoprotein. 13rJ Obstet Gynaecol 1989;9G:61-66.
45. Holmberg PC. Central-nervous-system defects in children born to mothers exposed to organic solvents during pregnancy. Lancet 1979;ii:177179.
46. Holmes LB. Spina bifida: Anticonvulsants and other matemal influences. Ciba Found Symp 1994; 181:232-238.
47. James WH. Twinning and anencephaly. Ann Hum Biol 1976:3:401-409.
48. Jensson O, Aniason A, Gunnarsdottir I, et al. A family showing apparent X-linked inheritance of both anencephaly and spina bifida. J Med Genet 1988;25:227-229.
49. Jokiaho I, Salo A, Neimi KM, et al. Deletion 3q27-3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal milaria rubra-like lesions. Hum Genet 1989;83: 302-304.
50. Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. Philadelphia: WB Saunders, 1997.
51. Kallen B, Cocchi G, Knudsen LB, et al. International study of sex ratio and twinning of neural tube defects. Teratology 1994;50:322-331.
52. Kirke PN, Molly AM, Daly LE, et al. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med 1993;86:703-708.
53. Lary JM, Edmonds LD. Prevalence of spina bifida at birth-United States, 1983-1990: A comparison of two surveillance systems. MMWR 1996:45:15-26.
54. LeMarec B, Roussey M, Oger J, et al. Excess twinning in the parents of spina bifida. In: Nance WE, Alien G, Parisi P, eds. Twin Research: Biology and Epidemiology. NewYork: Alan R Liss, 1978:121-123.
55. Magnus P, Magnus EM, Berg K. Transcobalamins in the etiology of neural tube defects. Clin Genet 1991:39:309-310.
56. Mambidge KM, Neidner KH, Walravens PA. Zinc, acrodermatitis emeropathica, and congenital malformations. Lancet 1975;1:577-578.
57. Mariman ECM, Hamel BCJ. Sex ratios of affected and transmitting members of multiple case families with neural tube defects. J Med Genet 1992:29:695-698.
58. Martînez-Frîas M-L, Urioste M, Bermejo E, et al. Epidemiological analysis of multisite closure failure of neural tube in humans. Am J Med Genet 1996:66:64-68.
59. Martinez-Romàn S, Torres PJ, Puerto B. Acardius acephalus after ovulation induction by clomiphene. Teratology 1995;51:231-232.
60. McFadden DE, Kalausek DK. Survey of neural tube defects in spontaneously aborted embryos. AmJ Med Genet 1989;32:356-358.
61. McManus S. Neural tube defects: Identification of "high-risk" women. Ir Med J 1987:80:166168.
62. McMichael AJ, Dreosti IE, Ryan P, et al. Neural tube defects and maternal zinc and copper concentrations in mid-pregnancy: A casecontrol study. MedJ Aust 1994:161:478-482.
63. Menashi M, Ornoy A, Cohen MM. Anencephaly in trisomy 18: Related or unrelated? Teratology 1977:15:325-328.
64. Merrild U, Schioler V, Christensen F. Anencephaly in trisomy 18 associated with elevated alpha-1fetoprotein in amniotic fluid. Hum Genet 1978:45:85-88.
65. Michie CA. Neural tube defects in the 18th century. Lancet 1991;337:504.
66. Miller P, Smith DW, Shepard TH. Maternai hypertherniia as a possible cause of anencephaly. Lancet 1978; 1:519-521.
67. Mills JL, McPartlinJM, Kirke PN, et al. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 1995;345:149-151.
68. Milunsky A, Morris JS.Jick H, et al. Maternal zinc and fetal neural tube defects. Teratology 1992;46:341-348.
69. Mita R, Moriyama T, Sekiya T, et al. A case of "cri-du-chat" syndrome with meningomyelo-cele. No Shinkei Geka 1980:8:761-765.
70. Moore ÇA, HarmonJP, Padiella L-M, et al. Neural tube defects and omphalocele in trisomy 18. Clin Genêt 1988;34:98-103.
71. MRC Vitamin Study Research Group. Prévention of neural tube defects; results of the Medical Research Council Study. Lancet 1991;338: 131-137.
72. Nevin NC, Johnston WP. Risk of recurrence after two children with central nervous system malformations in an area of high incidence. J Med Genet 1980;17:87-92.
73. Nickel RE, Magenis RE. Neural tube defects and deletions of 22qll. Am J Med Genet 1996;66:25-27.
74. Ou CY, Stevenson RE, Brown VK, et al. 5,10 methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. AmJ Med Genet 1996;63:610-614.
75. Papp C, Adam Z, Toth-Pal E, et al. Risk of recurrence of craniospinal anomalies. J Matem Fetal Med 1997;6:53-57.
76. Pitt D, Leversha M, Sinfield C, et al. Tetraploidy in a liveborn infant with spina bifida and other anomalies. J Med Genet 1981 ; 18:309-311.
77. Plaja A, Vendrell T, Sarret E, et al. Terminal deletion of Xp in a dysmorphic anencephalic fétus. PrenatDiagn 1994;14:410-412.
78. Putz D, Render H. Anencephaly in one monoamniotic-monochorionic twin and encephalocele in the other. AmJ Med Genêt 1985;21:631-635.
79. Rivas F, Olivares N, Chakraborty R. Twinning and neural tube defects. Am J Hum Genet 1995:57:193-194.
80. Robert E, Guibaud P. Maternal valproic acid and congenital neural tube defects. Lancet 1982;ii: 937.
81. Robert E, Rosa F. Valproate and birth defects. Lancet 1983;ii:l 142.
82. Rodriguez JI, Garcia M, Morales C, et al. Trisomy 13 syndrome and neural tube defects. Am J Med Genet 1990;36:513-516.
83. Rosa FW. Spina bifida in infants of women treated with carbamezapine during pregnancy. N EnglJ Med 1991:324:674-677.
84. Rosenquist TH, Ratashak SA, Seihub J. Homocysteine induces congenital defects of the heart and neural tube: Effect of folic acid. Proc Natl Acad Sei USA 1996;93:15227-15232.
85. Rothman KJ, Moore LL, Singer MR, et al. Teratogenicity of high vitamin A intake. N EnglJMed 1995;333:1369-1373.
86. Savage NM, Maclachlan NA, Joyce ÇA, et al. Isolated sacral agenesis in a fetus monosomic for 7q36.1-qter. J Med Genet 1997;34:866-868.
87. Schinzel AAGL, Smith DW, Miller JR. Monozygotic twinning and structural defects. J Pediatr 1979;95:921-930.
88. Schmid W, Muhlethaler JP, Briner J, et al. Ring chromosome 13 in a polyformed anencephaly. Himangenetik 1975;27:63-66.
89. Scott JM, Weir DG. Folate and neural tube defects. In: Bailey LB, ed. Folate in Health and Disease. New York: Marcel Dekker, 1995: 329-360.
90. Seller MJ. Vitamins, folic acid and the cause and prevention of neural tube defects. Ciba Found Symp 1994;181:161-179.
91. Seller MJ. Neural tube defects chromosome abnormalities and multiple sites for the human neural tube. Clin Dysmorphol 1995;4:202207.
92. Singer N, Gersen S, Warburton D. The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24-pter). Prenat Diagn 1987;7: 567-571.
93. Soltan MH, Jenkins DM. Maternal and fetal zinc concentration and fetal abnormality. Br J Obstet Gynaecol 1982;89:56-58.
94. StambergJ, Shapiro J, Valle D, et al. Partial trisomy 6q, due to balanced maternal translocation (6;22)(q21;pl3) or (q21;pter). Clin Genet 1981:19:122-125.
95. Steegers-Theunissen RP, Boers GH, Blom HJ, et al. Neural tube defects and elevated homocysteine levels in amniotic fluid. Am J Obstet Gynecol 1995:172:1436-1441.
96. Stevenson RE, Schwanz CE, Du Y-Z, et al. Différences in methylenetetrahydrofolate reductase genotype frequencies, between whites and blacks. Am J Hum Genet 1997;60:229230.
97. Theilgaard A, Lundsteen C, Parving HH, et al. Trisomy 8 syndrome. A psychological and somatic study of a mentally non-retarded male with 46, XY/47, XY, +8 chromosome constitution. Clin Genet 1977;12:227-232.
98. Thiersch JB. Therapeutic abortions with a folic acid antagonist 4-aminopteroyIg!utamic acid administered by the oral route. Am J Obstet Gynecol 1952;63:1298-1304.
99. Thiersch JB. The control of reproduction in rats with the aid of antimetabolites and early experiences with antimetabolites as abortificient agents in man. Acta Endocrinol (Copenh) [Suppl] 1956;28:37-45.
100. Van Alien MI, Kalousek DK, Chernoff GF, et al. Evidence for multi-site closure of the neural tube in humans. Am J Med Genet 1993;47: 723-743.
101. van der Put NMJ, Steegers-Theunissen RPM, Frosst P, et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995;346:1070-1071.
102. van der Put NMJ, Eskes TKAB, Blom HJ. Is the common 677->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. Q J Medl997;90:lll-115.
103. van der Put NMJ, Gabreels F, Stevens EMB, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects? Am J Hum Genet 1998;62:1044-1051.
104. Wald NJ, Hackshaw AK, Stone R, et al. Blood folie acid and vitamin B12 in relation to neural tube defects. Br J Obstet Gynaecol 1996;103:319324.
105. Weekes EW, Tamura T, Davis RO, et al. Nutrient levels in amniotic fluid from women with normal and neural tube defect pregnancies. BiolNeonate 1992;61:226-231.
106. Whitehead AS, Galhgher P, Mills JL, et al. A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects. Q J Med 1995;88:763-766.
107. Williamson EM. Incidence and family aggregation of major congenital malformations of the central nervous system. J Med Genet /1965;2: 161-172.
108. Windham GC, Bjerkedal T. Malformations in twins and their siblings, Norway, 1967-1979. Acta Genet Med Gemellol (Roma) 1984;33: 87-95.
109. Windham GC, Sever LE. Neural tube defects among twin births. J Hum Genet 1992;34: 988-998.
110. Windham GC, Bjerkedal T, Sever LE. The association of re-inning and neural tube defects: Studies in Los Angeles, California, and Norway. Acta Genet Med Gemellol (Roma) 1982;31:165-172.
111. Winsor SH, McGrath MJ, Khalifa M, et al. A report of recurrent anencephaly with trisomy 2p232pter: Additional evidence for involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis. Prenat Diagn 1997:17:665-669.
112. Wright YM, Clark WE, Breg WR. Craniorachschisis in a partially trisomie fetus in a fanuly with reproductive failure and a reciprocal translocation, t(6p plus;llq minus). J Med Genet 1974;ll:69-75.
113. Yen S, MaMohan B. Genetics of anencephaly and spina bifida? Lancet 1968:2:623-626.
114. Zumel RM, Darnaude MT, Delicado A, et al. Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review. Ann Genet (Paris) 1989;32:247-249.