Mutations in VANGL1 associated with neural-tube defects
- PMID: 17409324
- DOI: 10.1056/NEJMoa060651
Mutations in VANGL1 associated with neural-tube defects
Abstract
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.
Copyright 2007 Massachusetts Medical Society.
Comment in
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VANGL2 mutations in human cranial neural-tube defects.N Engl J Med. 2010 Jun 10;362(23):2232-5. doi: 10.1056/NEJMc0910820. N Engl J Med. 2010. PMID: 20558380 No abstract available.
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