Article

A novel truncating variant c.1222DupC in <i>RBM20</i> causes cardiomyopathy through haploinsufficiency

2025-09-18

Abstract excerpt

<h4>ABSTRACT</h4> RBM20 is a cardiac splicing factor responsible for splicing of several cardiac genes such as TTN, TRDN, RyR2, PDLIM1, and CAMK2D. Mutations in RBM20 are a major cause of familial dilated cardiomyopathy (DCM), and lead to missplicing of RBM20 target genes. Here, we describe a novel heterozygous truncating mutation, RBM20 c.1222DupC, identified in a patient with mitral valve prolapse and late onse...

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Literature Corpus work: ea191f30-d16a-5694-a1e9-71ed6996fb1e
DOI: 10.1101/2025.09.16.25335490

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