Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy
| Autor: | Rong Xiang, Jingjing Li, Liang-Liang Fan, Ji-Shi Liu |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Mutation Missense Plakoglobin Desmoglein-2 030204 cardiovascular system & hematology Right ventricular cardiomyopathy 03 medical and health sciences Heart disorder 0302 clinical medicine Asian People Internal medicine Humans Medicine Exome Arrhythmogenic Right Ventricular Dysplasia Exome sequencing Aged Desmocollins DSC2 biology business.industry Desmoplakin Sequence Analysis DNA Middle Aged Pedigree 030104 developmental biology biology.protein Cardiology Female Desmocollin Cardiology and Cardiovascular Medicine business |
| Zdroj: | The American Journal of Cardiology. 119:1485-1489 |
| ISSN: | 0002-9149 |
| Popis: | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare heart disorder characterized by myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have revealed that the generation and development of ARVC are related to structural changes of desmosomes. To date, at least 5 genes associated with desmosomes have been identified in patients with ARVC, including Desmoplakin , Plakophilin 2 , Desmoglein 2 , Desmocollin 2 , and Junction plakoglobin . In this study, we applied whole-exome sequencing to explore the potential causative gene in a Chinese family with suspicious ARVC. A novel missense mutation (c.1090 G > A/p.V364 M) of DSC2 was identified and co-segregated with the affected family members. This mutation leads to a substitution of valine by methionine and is predicted to be damaging by bioinformatics tools. In conclusion, our study not only expands the spectrum of DSC2 mutations and contributes to genetic counseling of families with ARVC but also improves the awareness of pathogenesis in Chinese patients with ARVC. |
| Databáze: | OpenAIRE |
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