{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T13:35:52Z","timestamp":1785332152945,"version":"3.55.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T00:00:00Z","timestamp":1664841600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats: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 <jats:italic>DES<\/jats:italic> gene can cause hereditary cardiomyopathy with heterogeneous phenotypes, while the underlying molecular mechanisms requires further investigation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats: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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>An unknown heterozygote missense variant (c.1300G &amp;gt; A; p. E434K) of <jats:italic>DES<\/jats:italic> gene was identified. The mutation cosegregates in this family. The mutation was predicted as pathogenic and was absent in our 200 healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We identified a novel <jats:italic>DES<\/jats: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 <jats:italic>DES<\/jats:italic> mutations and hereditary cardiomyopathy but also broadened the spectrum of <jats:italic>DES<\/jats:italic> mutations.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fcvm.2022.971501","type":"journal-article","created":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T04:42:00Z","timestamp":1664858520000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case report: Whole-exome sequencing identifies a novel DES mutation (p. 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