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Review
. 2021 Feb 15;11(2):130.
doi: 10.3390/jpm11020130.

Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach

Paloma Jordà  1 , Rocío Toro  2   3 , Carles Diez  4   5 , Joel Salazar-Mendiguchía  4 , Anna Fernandez-Falgueras  6 , Alexandra Perez-Serra  6   7 , Monica Coll  6 , Marta Puigmulé  6 , Elena Arbelo  1   7 , Ana García-Álvarez  1 , Georgia Sarquella-Brugada  8   9 , Sergi Cesar  8 , Coloma Tiron  10 , Anna Iglesias  6 , Josep Brugada  1   7   8 , Ramon Brugada  6   7   9   10 , Oscar Campuzano  6   7   8   9
Affiliations
Review

Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach

Paloma Jordà et al. J Pers Med. .

Abstract

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.

Keywords: RBM20; arrhythmia; dilated cardiomyopathy; genetics; sudden cardiac death.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Structure and network of the RBM20 protein. (A) Glu-rich: Glutamate rich region; Leu-rich: Leucine rich region; Pro-rich: Proline rich region; RRM: RNA Recognition Motif; RS: Arginine-Serine Domain; ZnF1: Zinc Finger region 1; ZnF2: Zinc Finger region 2. (B) Conservation between species of RS region (amino acids 634–638). (C) Network of ten closest proteins to RBM20.
See this image and copyright information in PMC

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