The Search for Genetic Determinants of Human Neural Tube Defects

Overview

Journal Curr Opin Pediatr

Specialty Pediatrics

Date 2019 Nov 7

PMID 31693581

Citations 10

Authors

Paul Wolujewicz

M Elizabeth Ross

Affiliations

Soon will be listed here.

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.

Citing Articles

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