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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Detalles Bibliográficos
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
Descripción
Sumario: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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