Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy

被引：0

作者：

Natsuko Inagaki

Takeharu Hayashi

Yasuyoshi Takei

Hisanori Kosuge

Shinji Suzuki

Kousuke Tanimoto

Taishiro Chikamori

Akinori Kimura

机构：

[1] Tokyo Medical University,Department of Cardiology

[2] Tokyo Medical University,Department of Clinical Genetics Center

[3] Tokai University School of Medicine,Department of Physiology

[4] Tokyo Medical and Dental University,Department of Molecular Pathogenesis, Medical Research Institute

[5] Tokyo Medical University,Department of Pediatrics and Adolescent Medicine

[6] Tokyo Medical and Dental University,Genome Laboratory, Medical Research Institute

来源：

Human Genome Variation | / 9卷

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摘要：

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.

引用

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