NMIHBA is inherited in an autosomal recessive manner, meaning that an affected child inherits two defective copies of the PRUNE1 gene, one from each unaffected parent. The abnormal versions of the gene cause it to not work properly or be absent from the patient cells. PRUNE1 is an enzyme that works by adding phosphate to other proteins important for the cells to function properly. The gene is expressed across many tissues, but importantly in the brain and spinal cord during development. Variants that change the sequence of amino acids in the protein or cause it to be degraded by the cell are the cause of NMIHBA.
PRUNE1