一名日本患者的致心律失常性右心室心肌病与东亚人群中 DSG2 的同源基因变异有关。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-08-08 DOI:10.1038/s41439-022-00206-9

Haruka Murakami, Yoko Tanimoto, Kojiro Tanimoto, Satomi Inoue, Taisuke Ishikawa, Naomasa Makita, Kazuki Yamazawa

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引用次数: 0

摘要

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，我们报告了一名日本 ARVC 患者，其父母为血亲。基因检测发现了 DSG2 的一个同源罕见变异，即 c.1592T > G (p.Phe531Cys)，该变异被认为是东亚人中的始祖变异。我们为患者及其家庭成员提供了遗传咨询，包括精确的风险评估和适当的后续计划。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.

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Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks