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RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart
RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to cause the development of dilated cardiomyopathy by erroneous splicing of the gene TTN (titin). Titin is a giant protein...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7828370/ https://www.ncbi.nlm.nih.gov/pubmed/33450993 http://dx.doi.org/10.3390/genes12010094 |
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author | Vakhrushev, Yuriy Kozyreva, Alexandra Semenov, Andrey Sokolnikova, Polina Lubimtseva, Tamara Lebedev, Dmitry Smolina, Natalia Zhuk, Sergey Mitrofanova, Lubov Vasichkina, Elena Kostareva, Anna |
author_facet | Vakhrushev, Yuriy Kozyreva, Alexandra Semenov, Andrey Sokolnikova, Polina Lubimtseva, Tamara Lebedev, Dmitry Smolina, Natalia Zhuk, Sergey Mitrofanova, Lubov Vasichkina, Elena Kostareva, Anna |
author_sort | Vakhrushev, Yuriy |
collection | PubMed |
description | RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to cause the development of dilated cardiomyopathy by erroneous splicing of the gene TTN (titin). Titin is a giant protein found in a structure of the sarcomere that functions as a molecular spring and provides a passive stiffness to the cardiomyocyte. Later, RBM20 mutations were also described in association with arrhythmogenic right ventricular cardiomyopathy and left ventricular noncompaction cardiomyopathy. Here, we present a clinical case of a rare arrhythmogenic phenotype and no structural cardiac abnormalities associated with a RBM20 genetic variant of uncertain significance. |
format | Online Article Text |
id | pubmed-7828370 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-78283702021-01-25 RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart Vakhrushev, Yuriy Kozyreva, Alexandra Semenov, Andrey Sokolnikova, Polina Lubimtseva, Tamara Lebedev, Dmitry Smolina, Natalia Zhuk, Sergey Mitrofanova, Lubov Vasichkina, Elena Kostareva, Anna Genes (Basel) Case Report RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to cause the development of dilated cardiomyopathy by erroneous splicing of the gene TTN (titin). Titin is a giant protein found in a structure of the sarcomere that functions as a molecular spring and provides a passive stiffness to the cardiomyocyte. Later, RBM20 mutations were also described in association with arrhythmogenic right ventricular cardiomyopathy and left ventricular noncompaction cardiomyopathy. Here, we present a clinical case of a rare arrhythmogenic phenotype and no structural cardiac abnormalities associated with a RBM20 genetic variant of uncertain significance. MDPI 2021-01-13 /pmc/articles/PMC7828370/ /pubmed/33450993 http://dx.doi.org/10.3390/genes12010094 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Vakhrushev, Yuriy Kozyreva, Alexandra Semenov, Andrey Sokolnikova, Polina Lubimtseva, Tamara Lebedev, Dmitry Smolina, Natalia Zhuk, Sergey Mitrofanova, Lubov Vasichkina, Elena Kostareva, Anna RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart |
title | RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart |
title_full | RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart |
title_fullStr | RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart |
title_full_unstemmed | RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart |
title_short | RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart |
title_sort | rbm20-associated ventricular arrhythmias in a patient with structurally normal heart |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7828370/ https://www.ncbi.nlm.nih.gov/pubmed/33450993 http://dx.doi.org/10.3390/genes12010094 |
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