Author(s): Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, , Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J,
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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.
This article was published in N Engl J Med
and referenced in Advanced Techniques in Biology & Medicine