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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1432-1437
Number of pages6
JournalNew England Journal of Medicine
Volume356
Issue number14
DOIs
Publication statusPublished - Apr 5 2007

ASJC Scopus subject areas

  • Medicine(all)

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