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Previous Volume 356:1432-1437 April 5, 2007 Number 14 Next

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SUMMARY

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.

Source Information

From the Department of Biochemistry, McGill University (Z.K., E.T., J.B., M.M., P.G.), and the Centre for Research in Neuroscience, Research Institute of the McGill University Health Centre, and the Department of Pathology and Cell Biology, University of Montreal (J.R.M., A.R., P.D.) — all in Montreal; the Institute of Hereditary Diseases, Minsk, Belarus (I.K.); Unità Operativa di Neurochirurgia, Istituto G. Gaslini, Genoa, Italy (P.D.M., E.M., V.C.); and the Institute for Cellular and Molecular Biology, University of Texas, Austin (J.M.H., J.B.W.). Address reprints requests to Dr. Gros at the Department of Biochemistry, McGill University, 3655 Promenade Sir William Osler, Rm. 907, Montreal, QC H3G 1Y6, Canada, or at philippe.gros{at}mcgill.ca.

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