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Novel mutations in VANGL1 in neural tube defects†

  1. Zoha Kibar1,*,
  2. Ciprian M. Bosoi1,
  3. Megan Kooistra2,
  4. Sandra Salem2,
  5. Richard H. Finnell3,
  6. Patrizia De Marco4,
  7. Elisa Merello4,
  8. Alexander G. Bassuk5,
  9. Valeria Capra4,
  10. Philippe Gros2

Article first published online: 24 MAR 2009

DOI: 10.1002/humu.21026

Issue

Human Mutation

Human Mutation

Volume 30, Issue 7, pages E706–E715, July 2009

Additional Information

How to Cite

Kibar, Z., Bosoi, C. M., Kooistra, M., Salem, S., Finnell, R. H., De Marco, P., Merello, E., Bassuk, A. G., Capra, V. and Gros, P. (2009), Novel mutations in VANGL1 in neural tube defects. Human Mutation, 30: E706–E715. doi: 10.1002/humu.21026

Author Information

  1. 1

    CHU Sainte Justine Research Center, Department of Obstetrics and Gynecology, University of Montreal

  2. 2

    Department of Biochemistry, McGill University, Montreal, QC, Canada

  3. 3

    Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M Health Science Center, Houston, TX 77030, USA

  4. 4

    U.O. Neurochirurgia, Instituto G. Gaslini, Genova, Italy

  5. 5

    Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA

*CHU Sainte Justine Research Center, 3175 Cote-Ste-Catherine, Room A711, Montreal, QC H3T 1C5 Canada

  1. †

    Communicated by Sergio Ottolenghi

Publication History

  1. Issue published online: 23 JUN 2009
  2. Article first published online: 24 MAR 2009
  3. Manuscript Accepted: 12 MAR 2009
  4. Manuscript Received: 27 AUG 2008

Funded by

  • Fonds de la Recherche en Santé du Québec
  • Canadian Institutes for Health Research
  • Gaslini Foundation and Telethon-Italy. Grant Number: GGP08051

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Keywords:

  • VANGL1;
  • neural tube defects;
  • planar cell polarity

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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