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Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy

Natsuko Inagaki1,2, Takeharu Hayashi3,4, Yasuyoshi Takei5

  • 1Department of Cardiology, Tokyo Medical University, Tokyo, Japan. abenatsu@wb3.so-net.ne.jp.

Human Genome Variation
|February 19, 2022
PubMed

Insights

RNA-binding protein 20 (RBM20) variants are linked to hypertrophic cardiomyopathy (HCM). A specific RBM20 variant, p.Arg636His, previously associated with dilated cardiomyopathy (DCM), was identified in a family with HCM, suggesting a novel role for RBM20 in HCM.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Etiology of Cardiomyopathies

Background:

  • RNA-binding protein 20 (RBM20) is primarily known as a disease-causing gene for dilated cardiomyopathy (DCM).
  • Familial hypertrophic cardiomyopathy (HCM) has diverse genetic underpinnings, but novel causative genes are continually being identified.
  • The p.Arg636His missense variant in RBM20 has been previously reported as pathogenic in families with DCM.

Purpose of the Study:

  • To investigate the genetic basis of familial hypertrophic cardiomyopathy (HCM) in a family.
  • To determine if the RBM20 gene and its variants play a role in the pathogenesis of HCM.
  • To evaluate the p.Arg636His variant of RBM20 as a potential causative factor for familial HCM.

Main Methods:

  • Clinical evaluation of proband and family members presenting with hypertrophic cardiomyopathy (HCM).
  • Genetic sequencing to identify variants in candidate genes, including RBM20.
  • Segregation analysis of the identified RBM20 variant within the affected family.

Main Results:

  • The proband presented with the dilated phase of hypertrophic cardiomyopathy (HCM).
  • The mother of the proband also had a history of hypertrophic cardiomyopathy (HCM).
  • Both the proband and the mother carried the RBM20 p.Arg636His missense variant, which was previously associated with dilated cardiomyopathy (DCM).

Conclusions:

  • The RBM20 p.Arg636His variant is a potential causative factor for hypertrophic cardiomyopathy (HCM) in this familial case.
  • RBM20 may represent a novel causative gene for hypertrophic cardiomyopathy (HCM), expanding its known clinical spectrum beyond DCM.
  • Further research is warranted to elucidate the precise mechanisms by which RBM20 variants contribute to HCM pathogenesis.

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