Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2007 Apr 5;356(14):1432-7.
doi: 10.1056/NEJMoa060651.

Mutations in VANGL1 associated with neural-tube defects

Zoha Kibar  1 , 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
Affiliations
Free article

Mutations in VANGL1 associated with neural-tube defects

Zoha Kibar et al. N Engl J Med. .
Free article

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.

PubMed Disclaimer

Comment in

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

-