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

doi:10.1056/NEJMoa060651

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	1432-1437
Number of pages	6
Journal	New England Journal of Medicine
Volume	356
Issue number	14
DOIs	https://doi.org/10.1056/NEJMoa060651
Publication status	Published - Apr 5 2007

ASJC Scopus subject areas

Medicine(all)

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10.1056/NEJMoa060651

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Mutations in VANGL1 associated with neural-tube defects. / Kibar, Zoha; 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.

In: New England Journal of Medicine, Vol. 356, No. 14, 05.04.2007, p. 1432-1437.

Research output: Contribution to journal › Article › peer-review

Kibar, Zoha ; 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. / Mutations in VANGL1 associated with neural-tube defects. In: New England Journal of Medicine. 2007 ; Vol. 356, No. 14. pp. 1432-1437.

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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.",

author = "Zoha Kibar and Elena Torban and McDearmid, {Jonathan R.} and Annie Reynolds and Joanne Berghout and Melissa Mathieu and Irena Kirillova and {De Marco}, Patrizia and Elisa Merello and Hayes, {Julie M.} and Wallingford, {John B.} and Pierre Drapeau and Valeria Capra and Philippe Gros",

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AU - Mathieu, Melissa

AU - Kirillova, Irena

AU - De Marco, Patrizia

AU - Merello, Elisa

AU - Hayes, Julie M.

AU - Wallingford, John B.

AU - Drapeau, Pierre

AU - Capra, Valeria

AU - Gros, Philippe

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