| Autor: |
Haruka Murakami, Yoko Tanimoto, Kojiro Tanimoto, Satomi Inoue, Taisuke Ishikawa, Naomasa Makita, Kazuki Yamazawa |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2054-345X |
| DOI: |
10.1038/s41439-022-00206-9 |
| Popis: |
Abstract 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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