NMIHBA is inherited in an autosomal recessive manner and is caused by biallelic loss of function or hypomorphic variants in the gene PRUNE1. The protein product of PRUNE1 is an exopolyphosphatase enzyme that is expressed across many tissues, but importantly in the central nervous system during embryonic development. Mostly missense variants have been reported associated with NMIHBA, but nonsense, frameshift, splicing and intragenic deletions have been reported in patients with this disorder.
PRUNE1