Malignant Arrhythmogenic Role Associated with <i>RBM20</i>: A Comprehensive Interpretation Focused on a Personalized Approach

The <i>RBM20</i> gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in <i>RBM20</i> have been reported in the last ten years, being found to be associated with h...

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Bibliographic Details
Main Authors: Paloma Jordà, Rocío Toro, Carles Diez, Joel Salazar-Mendiguchía, Anna Fernandez-Falgueras, Alexandra Perez-Serra, Monica Coll, Marta Puigmulé, Elena Arbelo, Ana García-Álvarez, Georgia Sarquella-Brugada, Sergi Cesar, Coloma Tiron, Anna Iglesias, Josep Brugada, Ramon Brugada, Oscar Campuzano
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Journal of Personalized Medicine
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Online Access:https://www.mdpi.com/2075-4426/11/2/130
Description
Summary:The <i>RBM20</i> gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in <i>RBM20</i> 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 <i>RBM20</i> that are associated with malignant arrhythmogenic phenotypes with a focus on personalized medicine.
ISSN:2075-4426