Publication: Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach
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Date
2021-02-15
Authors
Jordà, Paloma
Toro, Rocío
Diez, Carles
Salazar-Mendiguchía, Joel
Fernandez-Falgueras, Anna
Perez-Serra, Alexandra
Coll, Monica
Puigmulé, Marta
Arbelo, Elena
García-Álvarez, Ana
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MDPI
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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.
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MeSH Terms
Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Cardiomyopathies
Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::RNA Processing, Post-Transcriptional::RNA Splicing::Alternative Splicing
Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nucleoproteins::RNA-Binding Proteins
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::RNA Processing, Post-Transcriptional::RNA Splicing
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Anatomy::Musculoskeletal System::Muscles
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::RNA Processing, Post-Transcriptional::RNA Splicing::Alternative Splicing
Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nucleoproteins::RNA-Binding Proteins
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::RNA Processing, Post-Transcriptional::RNA Splicing
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Anatomy::Musculoskeletal System::Muscles
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
DeCS Terms
CIE Terms
Keywords
Sudden cardiac death, Arrhythmia, Dilated cardiomyopathy, Genetics, RBM20, Muerte súbita cardíaca, Arritmias cardíacas, Cardiomiopatía dilatada, Genética, Supresión genética
Citation
Jordà P, Toro R, Diez C, Salazar-Mendiguchía J, Fernandez-Falgueras A, Perez-Serra A, et al. Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach. J Pers Med. 2021 Feb 15;11(2):130