Expanding the Genetics of Impaired Neurodevelopment
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired neurodevelopment and recessive loss-of-function variants in the gene NEMF. Two of the five families that are described in a paper published in Human Genetics were identified at CENTOGENE.