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Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models

16 Jun 2024

Abstract excerpt

Research advances over the past 30 years have confirmed a critical role for genetics in the etiology of dilated cardiomyopathies (DCMs). However, full knowledge of the genetic architecture of DCM remains incomplete. We identified candidate DCM causal gene, C10orf71, in a large family with 8 patients with DCM by whole-exome sequencing. Four loss-of-function variants of C10orf71 were subsequently identified in an...

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PMID: 38950288
DOI: 10.1172/jci177172

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