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:10.1038/s41439-022-00183-z

Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy

Hum Genome Var. 2022 Feb 18;9(1):6. doi: 10.1038/s41439-022-00183-z.

Authors

Natsuko Inagaki^{1

2}, Takeharu Hayashi^{3

4}, Yasuyoshi Takei⁵, Hisanori Kosuge⁵, Shinji Suzuki⁶, Kousuke Tanimoto⁷, Taishiro Chikamori⁵, Akinori Kimura⁸

Affiliations

¹ Department of Cardiology, Tokyo Medical University, Tokyo, Japan. abenatsu@wb3.so-net.ne.jp.
² Department of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan. abenatsu@wb3.so-net.ne.jp.
³ Department of Physiology, Tokai University School of Medicine, Isehara, Japan. takehayashi@tulip.ocn.ne.jp.
⁴ Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan. takehayashi@tulip.ocn.ne.jp.
⁵ Department of Cardiology, Tokyo Medical University, Tokyo, Japan.
⁶ Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, Tokyo, Japan.
⁷ Genome Laboratory, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
⁸ Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.

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.