RNA Binding Motif Protein 20 (RBM20)

The deduced protein contains an RNA recognition motif-1 (RRM1), an arginine/serine (RS)-rich domain, and a U1-type zinc finger domain. The combination of RRM1 and RS domain is characteristic of spliceosomal proteins. Expression profiling of human and mouse tissues showed highest RBM20 expression in heart, followed by skeletal muscle. RT-PCR analysis confirmed RBM20 expression in human heart. DHPLC analysis of the RBM20 gene in a cohort of 278 CMD patients revealed 6 additional families with mutations in the RBM20 gene. The mutations all clustered in the RS domain in exon 9 of RBM20, cosegregated with disease, and were absent in controls. RBM20 mutations are associated with young age at diagnosis of CMD, end-stage heart failure, and high mortality.