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Neural tube defects

From SNPedia

Neural tube defects (NTDs) are a group of conditions in which an opening in the spinal cord or brain remains from early in human development. In the 3rd week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube. When the neural tube does not close completely, an NTD develops. Specific types include: spina bifida affecting the spine, anencephaly resulting in little to no brain, encephalocele affecting the skull, and iniencephaly which results in severe neck problems. NTDs are one of the most common birth defects, affecting over 300,000 births each year worldwide.Wikipedia

NTDs are caused by complex interactions of genetic, life style (in particular, diet) and environmental factors. Perhaps the best known example of a life style factor is maternal folate status, which has received substantial attention for over 40 years.

The mutations in folate-related genes that may be associated with altered risk for neural tube defects include the following:

For a list of studies associated with each mutation, see Table 2 in [PMID 24048206OA-icon.png].