Association between Vangl1 gene polymorphisms and neural tube defects

Neuropediatrics

Volumn 45, Issue 4, 2014, Pages 234-239

  Cai, Chunquan ^a,b   Shi, Ouyan ^b   Wang, Baiqi ^b   Chang, Baoxing ^b   Yang, Rui ^b   Wang, Yinsong ^b   Wang, Fang ^b   Shen, Changhong ^b  

^a Tianjin Children's Hospital   (China)

^b TIANJIN MEDICAL UNIVERSITY   (China)

Author keywords

gene polymorphisms; neural tube defects; VANGL1

Indexed keywords

GENOMIC DNA; CARRIER PROTEIN; MEMBRANE PROTEIN; VANGL1 PROTEIN, HUMAN;

ALPHA HELIX; AMINO ACID SEQUENCE; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEURAL TUBE DEFECT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM; TRAUMATIC BRAIN INJURY; VANGL1 GENE; WILD TYPE; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; GENETICS; INFANT; PRESCHOOL CHILD;

ASIAN CONTINENTAL ANCESTRY GROUP; CARRIER PROTEINS; CHILD, PRESCHOOL; CHINA; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; NEURAL TUBE DEFECTS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY;

EID: 84905253572     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0033-1364103     Document Type: Article

References (19)

1. Adeleye A. O., Dairo M. D., Olowookere K. G. Central nervous system congenital malformations in a developing country: issues and challenges against their prevention. Childs Nerv Syst: 2010; 26 7 919 924
2. von Rhein M., Tamaru A., Kwiecien R., Schwarz M., Knuf M. Postoperative outcome of children with neural tube defects and craniocervical decompression surgery: risk factors with regard to complications and length of hospitalization. Neuropediatrics: 2010; 41:P1361. doi: 10.1055/s-0030-1265606
3. Kirke P. N., Molloy A. M., Daly L. E., Burke H., Weir D. G., Scott J. M. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med: 1993; 86 11 703 708
4. Thomas P., Fenech M. Methylenetetrahydrofolate reductase, common polymorphisms, and relation to disease. Vitam Horm: 2008; 79 375 392
5. Parle-McDermott A., Mills J. L., Kirke P. N., et al. Analysis of the MTHFR 1298A->C and 677C->T polymorphisms as risk factors for neural tube defects. J Hum Genet: 2003; 48 4 190 193 (Pubitemid 36604638)
6. van der Linden I. J., Afman L. A., Heil S. G., Blom H. J. Genetic variation in genes of folate metabolism and neural-tube defect risk. Proc Nutr Soc: 2006; 65 2 204 215 (Pubitemid 43799276)
7. De Marco P., Merello E., Cama A., Kibar Z., Capra V. Human neural tube defects: genetic causes and prevention. Biofactors: 2011; 37 4 261 268
8. Kibar Z., Torban E., McDearmid J. R., et al. Mutations in VANGL1 associated with neural-tube defects. N Engl J Med: 2007; 356 14 1432 1437 (Pubitemid 46556328)
9. Kibar Z., Bosoi C. M., Kooistra M., et al. Novel mutations in VANGL1 in neural tube defects. Hum Mutat: 2009; 30 7 E706 E715
10. Wang Y., Guo N., Nathans J. The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner-ear sensory hair cells. J Neurosci: 2006; 26 8 2147 2156 (Pubitemid 44699023)
11. De Marco P., Merello E., Rossi A., et al. FZD6 is a novel gene for human neural tube defects. Hum Mutat: 2012; 33 2 384 390
12. Bartsch O., Kirmes I., Thiede A., et al. Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects. Mol Syndromol: 2012; 3 2 76 81
13. Lei Y. P., Zhang T., Li H., Wu B. L., Jin L., Wang H. Y. VANGL2 mutations in human cranial neural-tube defects. N Engl J Med: 2010; 362 23 2232 2235
14. Kibar Z., Salem S., Bosoi C. M., et al. Contribution of VANGL2 mutations to isolated neural tube defects. Clin Genet: 2011; 80 1 76 82
15. Simons M., Mlodzik M. Planar cell polarity signaling: from fly development to human disease. Annu Rev Genet: 2008; 42 517 540
16. Wen S., Zhu H., Lu W., et al. Planar cell polarity pathway genes and risk for spina bifida. Am J Med Genet A: 2010; 152A 2 299 304
17. De Marco P., Merello E., Mascelli S., Capra V. Current perspectives on the genetic causes of neural tube defects. Neurogenetics: 2006; 7 4 201 221 (Pubitemid 44584074)
18. Curtin J. A., Quint E., Tsipouri V., et al. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr Biol: 2003; 13 13 1129 1133 (Pubitemid 36815261)
19. Murdoch J. N., Henderson D. J., Doudney K., et al. Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. Hum Mol Genet: 2003; 12 2 87 98 (Pubitemid 36124445)