Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 356, Issue 14, Pages 1432-1437Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa060651
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- NIGMS NIH HHS [R01 GM074104] Funding Source: Medline
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Neural-tube defects such as anencephaly and spina bifida constitute a group of common congenital malformations caused by complex genetic and environmental factors. We have identified three mutations in the VANGL1 gene in patients with familial types (V239I and R274Q) and a sporadic type (M328T) of the disease, including a spontaneous mutation (V239I) appearing in a familial setting. In a protein-protein interaction assay V239I abolished interaction of VANGL1 protein with its binding partners, disheveled-1, -2, and -3. These findings implicate VANGL1 as a risk factor in human neural-tube defects.
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