TY - JOUR
T1 - Mutations in VANGL1 associated with neural-tube defects
AU - Kibar, Zoha
AU - Torban, Elena
AU - McDearmid, Jonathan R.
AU - Reynolds, Annie
AU - Berghout, Joanne
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
PY - 2007/4/5
Y1 - 2007/4/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=34047261773&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34047261773&partnerID=8YFLogxK
U2 - 10.1056/NEJMoa060651
DO - 10.1056/NEJMoa060651
M3 - Article
C2 - 17409324
AN - SCOPUS:34047261773
VL - 356
SP - 1432
EP - 1437
JO - New England Journal of Medicine
JF - New England Journal of Medicine
SN - 0028-4793
IS - 14
ER -