The PRMT7 gene is located on chromosome 16 and encodes for the protein arginine N-methyltransferase, an enzyme catalyzing the transfer of methyl groups from S-adenosyl-L-methionine to nitrogen on arginine residues in different proteins. This modification expands their functional complement. Methyltransferases regulate DNA repair, RNA processing, signal transduction, and subcellular protein localization and interactions. Biallelic missense, splicing, stopgain, and frameshift variants in PRMT7 have been detected in affected subjects. Two intragenic deletions and one duplication has also been reported. All these changes result in a loss-of-function of the methyltransferase activity (e.g., in histone arginine methylation and in the Wnt pathway), representing the main underlying pathogenic mechanism in PRMT7-related syndrome.
PRMT7