Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

ABSTRACT: Protein arginine methyltransferase 9 (PRMT9) is part of the PRMT family, and it is suspected to function in pathways relevant to neurodevelopment. It is thought to participate in alternative splicing through interactions with the splicing factor SF3B2 (SAP145). In this study, we report 26 families (35 individuals) with bi-allelic loss-of-function variants in PRMT9, implicating PRMT9 in an autosomal-recessive human disease. Individuals primarily present with a neurodevelopmental disorder characterized by global developmental delay, learning disabilities, mild to severe intellectual disability, autism spectrum disorder, epilepsy, and hypotonia. The mutation spectrum includes 26 different variants such as frameshifting indels, nonsense variants, missense variants, and two copy-number variants

SUBMITTER: Kroll-Hermi A 

PROVIDER: S-EPMC12808985 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature