Novel mutations in VANGL1 in neural tube defects |
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| Authors: | Zoha Kibar Ciprian M. Bosoi Megan Kooistra Sandra Salem Richard H. Finnell Patrizia De Marco Elisa Merello Alexander G. Bassuk Valeria Capra Philippe Gros |
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| Affiliation: | 1. CHU Sainte Justine Research Center, Department of Obstetrics and Gynecology, University of Montreal;2. Department of Biochemistry, McGill University, Montreal, QC, Canada;3. Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M Health Science Center, Houston, TX 77030, USA;4. U.O. Neurochirurgia, Instituto G. Gaslini, Genova, Italy;5. Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA |
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| 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. © 2009 Wiley‐Liss, Inc. |
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| Keywords: | VANGL1 neural tube defects planar cell polarity |
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