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PMID: 17409324 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Mutations in VANGL1 associated with neural-tube defects.

The New England journal of medicine ·Vol. 356 ·No. 14 ·2007-04-05 ·Pages 1432-7

Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M, Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Drapeau P, Capra V, Gros P

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.

MeSH Terms

Adaptor Proteins, Signal Transducing/metabolism Adolescent Adult Amino Acid Sequence Carrier Proteins/genetics,metabolism Child DNA Mutational Analysis Dishevelled Proteins Female Humans Intracellular Signaling Peptides and Proteins/genetics Italy Male Membrane Proteins/genetics,metabolism Molecular Sequence Data Mutation, Missense Neural Tube Defects/genetics Pedigree Phosphoproteins/metabolism Risk Factors Sequence Alignment

Chemicals

Adaptor Proteins, Signal Transducing Carrier Proteins Dishevelled Proteins Intracellular Signaling Peptides and Proteins Membrane Proteins Phosphoproteins VANGL1 protein, human VANGL2 protein, human

Authors & Affiliations

14 authors, click to expand affiliations / ORCID

Kibar Zoha

Department of Biochemistry, McGill University, Montreal, QC, Canada.

Torban Elena

McDearmid Jonathan R

Reynolds Annie

Berghout Joanne

Mathieu Melissa

Kirillova Irena

De Marco Patrizia

Merello Elisa

Hayes Julie M

Wallingford John B

Drapeau Pierre

Capra Valeria

Gros Philippe

Article Info

Journal

The New England journal of medicine

Abbr.

N Engl J Med

ISSN

1533-4406

DOI

10.1056/NEJMoa060651

Published

2007-04-05

Pages

1432-7

Language

English

Region

United States

NLM ID

0255562

Subset

Grants

NIGMS NIH HHS · R01 GM074104 · United States

Corrections

CommentIn

PMID: 20558380

External Links

PubMed source DOI: 10.1056/NEJMoa060651 View journal details

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Mutations in VANGL1 associated with neural-tube defects.

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