AI Article Synopsis
- RNA-binding motif protein 20 (RBM20) is crucial for splicing various cardiac genes, and mutations in this protein can lead to serious heart diseases like cardiomyopathies.
- The initial discovery linked RBM20 mutations to dilated cardiomyopathy through improper splicing of the titin gene, which is vital for heart muscle function.
- This summary also highlights a specific clinical case of an uncommon arrhythmogenic phenotype related to an unclear genetic variant, despite the absence of visible heart structure issues.
Article Abstract
(RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, mutations were discovered to cause the development of dilated cardiomyopathy by erroneous splicing of the gene (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, 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 genetic variant of uncertain significance.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7828370 | PMC |
| http://dx.doi.org/10.3390/genes12010094 | DOI Listing |
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