Francisco Martinez’s Post

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PhD, Geneticist

Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. #RareDisease #Genetics They identified a 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 additional group of 492 patients with sporadic DCM from 2 independent cohorts. C10orf71-KO mice had abnormal heart morphogenesis during embryonic development and cardiac dysfunction as adults with altered expression and splicing of contractile cardiac genes. C10orf71-null cardiomyocytes exhibited impaired contractile function with unaffected sarcomere structure. Cardiomyocytes and heart organoids derived from human induced pluripotent stem cells with C10orf71 frameshift variants also had contractile defects with normal electrophysiological activity. https://lnkd.in/d6cGafqf

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