The proband of Fam126 was diagnosed with DCM and harbours a DNV within an enhancer region that regulates the genes UTRN, STX11, and SF3B5. Diseases associated with UTRN (utrophin) include muscular dystrophy, endothelial dysfunction, and DCM [49, 50]. The gene discussed is STX11; the disease is familial dilated cardiomyopathy.