IDDDFP is transmitted in an autosomal dominant manner, which means that only, and copy of the gene must carry the mutations for the disease to occur. Missenses and frameshifts mutation have been reported. BRPF1 mutations leading to deletion of binding domains resulted in to incapacity to form tetrameric complexes and reduced capacity to stimulate acetyltransferase. Also, decreased H3K23 acetylation and deregulation of epigenetic were associated with BRPF1 mutations in transgenic mouse and in vitro studies.
BRPF1