Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia.
Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institute, 17177 Stockholm, Sweden.
Genes (Basel). 2021 Jan 13;12(1):94. doi: 10.3390/genes12010094.
(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.
（RNA 结合基序蛋白 20）是一种剪接因子，靶向多个心脏基因，其突变可导致心肌病。最初，突变被发现通过错误剪接基因（肌联蛋白）导致扩张型心肌病的发展。肌联蛋白是一种在肌节结构中发现的巨大蛋白，作为分子弹簧起作用，并为心肌细胞提供被动刚度。后来，还描述了与致心律失常性右心室心肌病和左心室致密化不全性心肌病相关的 突变。在这里，我们提出了一个罕见的心律失常表型的临床病例，与一种不确定意义的 基因突变相关，没有结构性心脏异常。
