Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy

RBM20 is a disease-causing gene associated with dilated cardiomyopathy (DCM). The proband presented with the dilated phase of hypertrophic cardiomyopathy (HCM), and the mother also suffered from HCM. A missense variant of RBM20, p.Arg636His, previously reported as pathogenic in several families with DCM, was found in both the proband and the mother. Therefore, RBM20 p.Arg636His could be the causative variant for this familial HCM, and RBM20 might be a novel causative gene for HCM.

Automated summary

This study identified a disease-causing gene, RBM20, associated with familial HCM, and confirmed that the p.Arg636His variant could be the causative factor for this particular HCM.