Toward understanding the genetic basis of neural tube defects

Zoha Kibar, V. Capra, P. Gros

Research output: Contribution to journalArticlepeer-review


Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving environmental and genetic factors and their underlying molecular and cellular pathogenic mechanisms remain poorly understood. Animal studies have recently demonstrated an essential role for the planar cell polarity pathway (PCP) in mediating a morphogenetic process called convergent extension during neural tube formation. Alterations in members of this pathway lead to NTDs in vertebrate models, representing novel and exciting candidates for human NTDs. Genetic studies in NTDs have focused mainly on folate-related genes based on the finding that perinatal folic acid supplementation reduces the risk of NTDs by 60-70%. A few variants in these genes have been found to be significantly associated with an increased risk for NTDs. The candidate gene approach investigating genes involved in neurulation has failed to identify major causative genes in the etiology of NTDs. Despite this history of generally negative findings, we are achieving a rapid and impressive progress in understanding the genetic basis of NTDs, based mainly on the powerful tool of animal models.

Original languageEnglish
Pages (from-to)295-310
Number of pages16
JournalClinical Genetics
Issue number4
Publication statusPublished - Apr 2007


  • Animal models
  • Convergent extension
  • Folate-related genes
  • Genetic basis
  • Neural tube defects
  • Planar cell polarity
  • Preventive mechanisms

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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