Current perspectives on the genetic causes of neural tube defects

Patrizia De Marco, Elisa Merello, Samantha Mascelli, Valeria Capra

Research output: Contribution to journalArticlepeer-review


Neural tube defects (NTDs) are a group of severe congenital abnormalities resulting from the failure of neurulation. The pattern of inheritance of these complex defects is multifactorial, making it difficult to identify the underlying causes. Scientific research has rapidly progressed in experimental embryology and molecular genetics to elucidate the basis of neurulation. Crucial mechanisms of neurulation include the planar cell polarity pathway, which is essential for the initiation of neural tube closure, and the sonic hedgehog signaling pathway, which regulates neural plate bending. Genes influencing neurulation have been investigated for their contribution to human neural tube defects, but only genes with well-established role in convergent extension provide an exciting new set of candidate genes. Biochemical factors such as folic acid appear to be the greatest modifiers of NTDs risk in the human population. Consequently, much research has focused on genes of folate-related metabolic pathways. Variants of several such genes have been found to be significantly associated with the risk of neural tube defects in more studies. In this manuscript, we reviewed the current perspectives on the causes of neural tube defects and highlighted that we are still a long way from understanding the etiology of these complex defects.

Original languageEnglish
Pages (from-to)201-221
Number of pages21
Issue number4
Publication statusPublished - Nov 2006


  • Folate metabolism
  • Genetic risk factors
  • Neural tube defects (NTDs)
  • Neurulation
  • Planar cell polarity (PCP) pathway

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)


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