AUTHOR=Liu Yu-Xing , Yu Rong , Sheng Yue , Fan Liang-Liang , Deng Yao 

TITLE=Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=9

YEAR=2022

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2022.971501

DOI=10.3389/fcvm.2022.971501

ISSN=2297-055X

ABSTRACT=<sec><title>Background</title><p>Desmin is an intermediate filament protein that plays a critical role in the stabilization of the sarcomeres and cell contacts in the cardiac intercalated disk. Mutated <italic>DES</italic> gene can cause hereditary cardiomyopathy with heterogeneous phenotypes, while the underlying molecular mechanisms requires further investigation.</p></sec><sec><title>Methods</title><p>We described a Chinese family present with cardiomyopathy and sudden cardiac death (SCD). Whole-exome sequencing (WES) and bioinformatics strategies were employed to explore the genetic entity of this family.</p></sec><sec><title>Results</title><p>An unknown heterozygote missense variant (c.1300G &gt; A; p. E434K) of <italic>DES</italic> gene was identified. The mutation cosegregates in this family. The mutation was predicted as pathogenic and was absent in our 200 healthy controls.</p></sec><sec><title>Conclusion</title><p>We identified a novel <italic>DES</italic> mutation (p. E434K) in a Chinese family with cardiomyopathy and SCD. Our study not only provided a new case for the study of the relationship between <italic>DES</italic> mutations and hereditary cardiomyopathy but also broadened the spectrum of <italic>DES</italic> mutations.</p></sec>