Neural tube defects (NTDs) represent a failure of the neural plate to
complete the developmental transition to a neural tube. NTDs are the most
common birth anomaly of the CNS. Following mandatory folic acid
fortification of dietary grains, a dramatic reduction in the incidence of
NTDs was observed in areas where the policy was implemented, yet the
genetic drivers of NTDs in humans, and the mechanisms by which folic acid
prevents disease, remain disputed. Here, we discuss current understanding
of human NTD genetics, recent advances regarding potential mechanisms by
which folic acid might modify risk through effects on the epigenome and
transcriptome, and new approaches to study refined phenotypes for a greater
appreciation of the developmental and genetic causes of NTDs.
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