期刊
JOURNAL OF PERSONALIZED MEDICINE
卷 11, 期 2, 页码 -出版社
MDPI
DOI: 10.3390/jpm11020130
关键词
sudden cardiac death; arrhythmia; dilated cardiomyopathy; genetics; RBM20
资金
- Obra Social La Caixa Foundation [LCF/PR/GN16/50290001, LCF/PR/GN19/50320002]
- Fondo Investigacion Sanitaria from Instituto Salud Carlos III (ISCIII) [FIS PI16/01203, FIS, PI17/01690]
- Fundacio Privada Daniel Bravo Andreu
Rare variants in the RBM20 gene are associated with malignant arrhythmias, early recognition of arrhythmic genotypes is crucial for avoiding lethal episodes, and personalized medicine may impact the adoption of preventive measures.
The RBM20 gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in RBM20 have been reported in the last ten years, being found to be associated with highly arrhythmogenic events in familial dilated cardiomyopathy. Frequently, malignant arrhythmias can be a primary manifestation of disease. The early recognition of arrhythmic genotypes is crucial in avoiding lethal episodes, as it may have an impact on the adoption of personalized preventive measures. Our study performs a comprehensive update of data concerning rare variants in RBM20 that are associated with malignant arrhythmogenic phenotypes with a focus on personalized medicine.
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