Novel mutations in VANGL1 in neural tube defects

Zoha Kibar, Ciprian M. Bosoi, Megan Kooistra, Sandra Salem, Richard H. Finnell, Patrizia De Marco, Elisa Merello, Alexander G. Bassuk, Valeria Capra, Philippe Gros

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
JournalHuman Mutation
Volume30
Issue number7
DOIs
Publication statusPublished - Jul 2009

Keywords

  • Neural tube defects
  • Planar cell polarity
  • VANGL1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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