JOURNAL ARTICLE

Mutations in VANGL1 associated with neural-tube defects

Zoha Kibar, Elena Torban, Jonathan R McDearmid, Annie Reynolds, Joanne Berghout, Melissa Mathieu, Irena Kirillova, Patrizia De Marco, Elisa Merello, Julie M Hayes, John B Wallingford, Pierre Drapeau, Valeria Capra, Philippe Gros
New England Journal of Medicine 2007 April 5, 356 (14): 1432-7
17409324
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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