Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis

Redouane Allache, Patrizia De Marco, Elisa Merello, Valeria Capra, Zoha Kibar

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Neural tube defects (NTDs), including anencephaly and spina bifida, have a complex etiology. Defects in the planar cell polarity (PCP) signaling pathway have been strongly associated with NTDs in animal models and human cohorts. In this genetic study, we examined the core PCP gene CELSR1 in NTDs and caudal agenesis cases to determine whether mutations at this gene predispose to these defects. Methods: We sequenced the coding region and the exon-intron junctions of CELSR1 in a cohort of 473 patients affected with various forms of open and closed NTDs (412) or caudal agenesis (61). Novel and rare variants (

Original languageEnglish
Pages (from-to)176-181
Number of pages6
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume94
Issue number3
DOIs
Publication statusPublished - Mar 2012

Keywords

  • Candidate gene
  • Caudal agenesis
  • CELSR1
  • Neural tube defects
  • Planar cell polarity pathway
  • Sequencing analysis

ASJC Scopus subject areas

  • Developmental Biology
  • Pediatrics, Perinatology, and Child Health
  • Embryology

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