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Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy.

Natsuko InagakiTakeharu HayashiYasuyoshi TakeiHisanori KosugeShinji SuzukiKousuke TanimotoTaishiro ChikamoriAkinori Kimura
Published in: Human genome variation (2022)
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.
Keyphrases
  • hypertrophic cardiomyopathy
  • left ventricular
  • genome wide
  • copy number
  • heart failure
  • intellectual disability
  • genome wide identification
  • early onset
  • gene expression
  • autism spectrum disorder
  • real time pcr