The search for genetic determinants of human neural tube defects. Review uri icon

Overview

abstract

  • PURPOSE OF REVIEW: An update is presented regarding neural tube defects (NTDs) including spina bifida and anencephaly, which are among the most common serious birth defects world-wide. Decades of research suggest that no single factor is responsible for neurulation failure, but rather NTDs arise from a complex interplay of disrupted gene regulatory networks, environmental influences and epigenetic regulation. A comprehensive understanding of these dynamics is critical to advance NTD research and prevention. RECENT FINDINGS: Next-generation sequencing has ushered in a new era of genomic insight toward NTD pathophysiology, implicating novel gene associations with human NTD risk. Ongoing research is moving from a candidate gene approach toward genome-wide, systems-based investigations that are starting to uncover genetic and epigenetic complexities that underlie NTD manifestation. SUMMARY: Neural tube closure is critical for the formation of the human brain and spinal cord. Broader, more all-inclusive perspectives are emerging to identify the genetic determinants of human NTDs.

publication date

  • December 1, 2019

Research

keywords

  • Neural Tube Defects
  • Spinal Dysraphism

Identity

PubMed Central ID

  • PMC6993899

Scopus Document Identifier

  • 85070602930

Digital Object Identifier (DOI)

  • 10.1016/j.celrep.2017.07.036

PubMed ID

  • 31693581

Additional Document Info

volume

  • 31

issue

  • 6