N Engl J Med. 2007 Apr 5;356(14):1432-7.

Mutations in VANGL1 associated with neural-tube defects.

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.

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

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.

Comment in

VANGL2 mutations in human cranial neural-tube defects. [N Engl J Med. 2010]
VANGL2 mutations in human cranial neural-tube defects.Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY. N Engl J Med. 2010 Jun 10; 362(23):2232-5.

PMID:: 17409324; [PubMed - indexed for MEDLINE]

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VANGL2 mutations in human cranial neural-tube defects. [N Engl J Med. 2010]
VANGL2 mutations in human cranial neural-tube defects.
Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY. N Engl J Med. 2010 Jun 10; 362(23):2232-5.
Novel mutations in VANGL1 in neural tube defects. [Hum Mutat. 2009]
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Review Human neural tube defects: genetic causes and prevention.
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Mutations in VANGL1 associated with neural-tube defects.
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