title: Novel mutations in VANGL1 in neural tube defects.
abstract: 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.
authors.affiliation: CHU Sainte Justine Research Center, Department of Obstetrics and Gynecology, University of Montreal, Montreal, QC, Canada. zoha.kibar@ recherche-ste-justine.qc.ca
authors.forename: Zoha
authors.initials: Z
authors.lastname: Kibar
authors.forename: Ciprian M
authors.initials: CM
authors.lastname: Bosoi
authors.forename: Megan
authors.initials: M
authors.lastname: Kooistra
authors.forename: Sandra
authors.initials: S
authors.lastname: Salem
authors.forename: Richard H
authors.initials: RH
authors.lastname: Finnell
authors.forename: Patrizia
authors.initials: P
authors.lastname: De Marco
authors.forename: Elisa
authors.initials: E
authors.lastname: Merello
authors.forename: Alexander G
authors.initials: AG
authors.lastname: Bassuk
authors.forename: Valeria
authors.initials: V
authors.lastname: Capra
authors.forename: Philippe
authors.initials: P
authors.lastname: Gros