Human Genome Variation (Feb 2022)

Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy

  • Natsuko Inagaki,
  • Takeharu Hayashi,
  • Yasuyoshi Takei,
  • Hisanori Kosuge,
  • Shinji Suzuki,
  • Kousuke Tanimoto,
  • Taishiro Chikamori,
  • Akinori Kimura

DOI
https://doi.org/10.1038/s41439-022-00183-z
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 4

Abstract

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Abstract 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.