{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:38:35Z","timestamp":1790836715519,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,10,2]],"date-time":"2018-10-02T00:00:00Z","timestamp":1538438400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002822","name":"Central South University","doi-asserted-by":"publisher","award":["CSUZC201737"],"award-info":[{"award-number":["CSUZC201737"]}],"id":[{"id":"10.13039\/501100002822","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dilated cardiomyopathy (DCM) is a relatively frequent myocardial disease that may lead to heart failure, syncope, and sudden cardiac death. Genetic factors play important roles in the etiology of the disease. To date, at least 50 genes have been identified in patients with DCM, among them, only three mutations have been reported in <jats:italic>Synemin<\/jats:italic> (<jats:italic>SYNM<\/jats:italic>) gene. In this study, we investigate a Chinese family of three generations with four patients with DCM. Employing whole\u2010exome sequencing (WES) and bioinformatics strategies, a novel heterozygous missense mutation p.(Trp538Arg) of <jats:italic>SYNM<\/jats:italic> was identified and cosegregated with the affected family members. The missense mutation locates in the C\u2010terminal domain of <jats:italic>SYNM<\/jats:italic> and leads to a substitution of tryptophan by arginine and may cause the structure change of synemin protein. In conclusion, we employed WES to detect the mutations of DCM patients and identified a novel likely pathogenic mutation in <jats:italic>SYNM<\/jats:italic> gene. Our study not only expands the spectrum of <jats:italic>SYNM<\/jats:italic> mutations, it further confirms that mutations in <jats:italic>SYMN<\/jats:italic> may underlie nonfamilial DCM, and offers genetic testing information to additional DCM patients.<\/jats:p>","DOI":"10.1111\/ahg.12287","type":"journal-article","created":{"date-parts":[[2018,10,2]],"date-time":"2018-10-02T07:40:36Z","timestamp":1538466036000},"page":"95-99","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A novel heterozygous variant p.(Trp538Arg) of <i>SYNM<\/i> is identified by whole\u2010exome sequencing in a Chinese family with dilated cardiomyopathy"],"prefix":"10.1111","volume":"83","author":[{"given":"Shu\u2010Bing","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Cell Biology, School of Life Sciences Central South University  Changsha 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