一名日本患者患有东亚人群中DSG2纯合奠基者变异的致心律失常性右室心肌病。
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.
作者信息
Murakami Haruka, Tanimoto Yoko, Tanimoto Kojiro, Inoue Satomi, Ishikawa Taisuke, Makita Naomasa, Yamazawa Kazuki
机构信息
Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Department of Cardiology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
出版信息
Hum Genome Var. 2022 Aug 8;9(1):28. doi: 10.1038/s41439-022-00206-9.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a Japanese patient with ARVC whose parents were blood relatives. Genetic testing identified a homozygous rare variant, c.1592T > G (p.Phe531Cys), of DSG2 that is presumed to be a founder variant among East Asians. Genetic counseling sessions with precise risk assessment and appropriate follow-up programs were provided to the patient and family members.
致心律失常性右室心肌病（ARVC）是一种遗传性心肌病，可导致致命性心律失常和心力衰竭。在此，我们报告一名患有ARVC的日本患者，其父母为近亲。基因检测发现DSG2基因存在一个纯合罕见变异，c.1592T > G（p.Phe531Cys），该变异被推测为东亚人群中的一个始祖变异。我们为该患者及其家庭成员提供了精确风险评估和适当随访计划的遗传咨询服务。
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