Mutations in VANGL1 associated with neural-tube defects
Mutations in VANGL1 associated with neural-tube defects
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DOI：
10.1056/nejmoa060651
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发表时间：
2007-04-05
影响因子：
158.5
通讯作者：
Gros, Philippe
中科院分区：
文献类型：
--
作者：
Kibar, Zoha;Torban, Elena;Gros, Philippe
神经管缺陷，如无脑畸形和脊柱裂，构成了一组常见的先天性畸形所造成的复杂的遗传和环境因素。我们已经在家族性类型（V239 I和R274 Q）和散发性类型（M328 T）的疾病患者中确定了VANGL 1基因的三种突变，包括在家族性环境中出现的自发突变（V239 I）。在蛋白质-蛋白质相互作用测定中，V239 I消除了VANGL 1蛋白与其结合伴侣diseveled-1、-2和-3的相互作用。这些发现暗示VANGL 1是人类神经管缺陷的危险因素。
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.