Novel mutations in VANGL1 in neural tube defects
- PMID: 19319979
- PMCID: PMC2885434
- DOI: 10.1002/humu.21026
Novel mutations in VANGL1 in neural tube defects
Abstract
Neural tube defects (NTDs) are severe congenital malformations caused by failure of the neural tube to close during neurulation. Their etiology is complex involving both environmental and genetic factors. We have recently reported three mutations in the planar cell polarity gene VANGL1 associated with NTDs. The aim of the present study was to define the role of VANGL1 genetic variants in the development of NTDs in a large cohort of various ethnic origins. We identified five novel missense variants in VANGL1, p.Ser83Leu, p.Phe153Ser, p.Arg181Gln, p.Leu202Phe and p.Ala404Ser, occurring in sporadic and familial cases of spinal dysraphisms. All five variants affect evolutionary conserved residues and are absent from all controls analyzed. This study provides further evidence supporting the role of VANGL1 as a risk factor in the development of spinal NTDs.
(c) 2009 Wiley-Liss, Inc.
Figures
![Figure 1](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/2885434/bin/ukmss-29213-f0001.gif)
Similar articles
-
Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.Birth Defects Res A Clin Mol Teratol. 2015 Jan;103(1):51-61. doi: 10.1002/bdra.23305. Epub 2014 Sep 10. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25208524
-
Genetic interaction between members of the Vangl family causes neural tube defects in mice.Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3449-54. doi: 10.1073/pnas.0712126105. Epub 2008 Feb 22. Proc Natl Acad Sci U S A. 2008. PMID: 18296642 Free PMC article.
-
Mutations in VANGL1 associated with neural-tube defects.N Engl J Med. 2007 Apr 5;356(14):1432-7. doi: 10.1056/NEJMoa060651. N Engl J Med. 2007. PMID: 17409324
-
Human neural tube defects: genetic causes and prevention.Biofactors. 2011 Jul-Aug;37(4):261-8. doi: 10.1002/biof.170. Epub 2011 Jun 14. Biofactors. 2011. PMID: 21674647 Review.
-
Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):633-41. doi: 10.1002/bdra.23255. Epub 2014 May 17. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24838524 Review.
Cited by
-
Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.Proc Natl Acad Sci U S A. 2024 Apr 30;121(18):e2310283121. doi: 10.1073/pnas.2310283121. Epub 2024 Apr 26. Proc Natl Acad Sci U S A. 2024. PMID: 38669183
-
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.Hum Genet. 2024 Mar;143(3):263-277. doi: 10.1007/s00439-024-02647-4. Epub 2024 Mar 7. Hum Genet. 2024. PMID: 38451291 Free PMC article.
-
An interaction between OTULIN and SCRIB uncovers roles for linear ubiquitination in planar cell polarity.Dis Model Mech. 2023 Aug 1;16(8):dmm049762. doi: 10.1242/dmm.049762. Epub 2023 Aug 17. Dis Model Mech. 2023. PMID: 37589075 Free PMC article.
-
Hypermethylation of PI3K-AKT signalling pathway genes is associated with human neural tube defects.Epigenetics. 2022 Jan-Feb;17(2):133-146. doi: 10.1080/15592294.2021.1878725. Epub 2021 Feb 17. Epigenetics. 2022. PMID: 33491544 Free PMC article.
-
FKBP8 variants are risk factors for spina bifida.Hum Mol Genet. 2020 Nov 4;29(18):3132-3144. doi: 10.1093/hmg/ddaa211. Hum Mol Genet. 2020. PMID: 32969478 Free PMC article.
References
-
- Barber R, Shalat S, Hendricks K, Joggerst B, Larsen R, Suarez L, Finnell R. Investigation of folate pathway gene polymorphisms and the incidence of neural tube defects in a Texas Hispanic population. Molec Genet Metab. 2000;70:45–52. - PubMed
-
- Catala M. Genetic control of caudal development. Clin Genet. 2002;61:89–96. - PubMed
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases