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Novel mutations in VANGL1 in neural tube defects
Author(s) -
Kibar Zoha,
Bosoi Ciprian M.,
Kooistra Megan,
Salem Sandra,
Finnell Richard H.,
De Marco Patrizia,
Merello Elisa,
Bassuk Alexander G.,
Capra Valeria,
Gros Philippe
Publication year - 2009
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21026
Subject(s) - neural tube , biology , missense mutation , neurulation , genetics , etiology , mutation , neural tube defect , bioinformatics , gene , medicine , embryogenesis , embryo , gastrulation
Neural tube defects (NTDs) are severe congenital malformations caused by failure of the neural tube to close during neurulation. Their etiology is complex involving both environmental and genetic factors. We have recently reported three mutations in the planar cell polarity gene VANGL1 associated with NTDs. The aim of the present study was to define the role of VANGL1 genetic variants in the development of NTDs in a large cohort of various ethnic origins. We identified five novel missense variants in VANGL1 , p.Ser83Leu, p.Phe153Ser, p.Arg181Gln, p.Leu202Phe and p.Ala404Ser, occurring in sporadic and familial cases of spinal dysraphisms. All five variants affect evolutionary conserved residues and are absent from all controls analyzed. This study provides further evidence supporting the role of VANGL1 as a risk factor in the development of spinal NTDs. © 2009 Wiley‐Liss, Inc.