Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy

RBM20 is a disease-causing gene associated with dilated cardiomyopathy (DCM). The proband presented with the dilated phase of hypertrophic cardiomyopathy (HCM), and the mother also suffered from HCM. A missense variant of RBM20, p.Arg636His, previously reported as pathogenic in several families with...

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Autores principales: Inagaki, Natsuko, Hayashi, Takeharu, Takei, Yasuyoshi, Kosuge, Hisanori, Suzuki, Shinji, Tanimoto, Kousuke, Chikamori, Taishiro, Kimura, Akinori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857244/
https://www.ncbi.nlm.nih.gov/pubmed/35181673
http://dx.doi.org/10.1038/s41439-022-00183-z
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author Inagaki, Natsuko
Hayashi, Takeharu
Takei, Yasuyoshi
Kosuge, Hisanori
Suzuki, Shinji
Tanimoto, Kousuke
Chikamori, Taishiro
Kimura, Akinori
author_facet Inagaki, Natsuko
Hayashi, Takeharu
Takei, Yasuyoshi
Kosuge, Hisanori
Suzuki, Shinji
Tanimoto, Kousuke
Chikamori, Taishiro
Kimura, Akinori
author_sort Inagaki, Natsuko
collection PubMed
description RBM20 is a disease-causing gene associated with dilated cardiomyopathy (DCM). The proband presented with the dilated phase of hypertrophic cardiomyopathy (HCM), and the mother also suffered from HCM. A missense variant of RBM20, p.Arg636His, previously reported as pathogenic in several families with DCM, was found in both the proband and the mother. Therefore, RBM20 p.Arg636His could be the causative variant for this familial HCM, and RBM20 might be a novel causative gene for HCM.
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spelling pubmed-88572442022-03-03 Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy Inagaki, Natsuko Hayashi, Takeharu Takei, Yasuyoshi Kosuge, Hisanori Suzuki, Shinji Tanimoto, Kousuke Chikamori, Taishiro Kimura, Akinori Hum Genome Var Data Report RBM20 is a disease-causing gene associated with dilated cardiomyopathy (DCM). The proband presented with the dilated phase of hypertrophic cardiomyopathy (HCM), and the mother also suffered from HCM. A missense variant of RBM20, p.Arg636His, previously reported as pathogenic in several families with DCM, was found in both the proband and the mother. Therefore, RBM20 p.Arg636His could be the causative variant for this familial HCM, and RBM20 might be a novel causative gene for HCM. Nature Publishing Group UK 2022-02-18 /pmc/articles/PMC8857244/ /pubmed/35181673 http://dx.doi.org/10.1038/s41439-022-00183-z Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Inagaki, Natsuko
Hayashi, Takeharu
Takei, Yasuyoshi
Kosuge, Hisanori
Suzuki, Shinji
Tanimoto, Kousuke
Chikamori, Taishiro
Kimura, Akinori
Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
title Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
title_full Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
title_fullStr Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
title_full_unstemmed Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
title_short Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
title_sort pathogenic variant of rbm20 in a multiplex family with hypertrophic cardiomyopathy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8857244/
https://www.ncbi.nlm.nih.gov/pubmed/35181673
http://dx.doi.org/10.1038/s41439-022-00183-z
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