{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:16:59Z","timestamp":1761718619818},"reference-count":61,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"j_cclm-2017-0461_s_999_w2aab3b7c60b1b6b1aab1c17b1Aa\"><jats:title>Background:<\/jats:title><jats:p>The MADS-box transcription factor myocyte enhancer factor 2C (MEF2C) is required for the cardiac development and postnatal adaptation and in mice-targeted disruption of the<jats:italic>MEF2C<\/jats:italic>gene results in dilated cardiomyopathy (DCM). However, in humans, the association of<jats:italic>MEF2C<\/jats:italic>variation with DCM remains to be investigated.<\/jats:p><\/jats:sec><jats:sec id=\"j_cclm-2017-0461_s_998_w2aab3b7c60b1b6b1aab1c17b2Aa\"><jats:title>Methods:<\/jats:title><jats:p>The coding regions and splicing boundaries of the<jats:italic>MEF2C<\/jats:italic>gene were sequenced in 172 unrelated patients with idiopathic DCM. The available close relatives of the index patient harboring an identified<jats:italic>MEF2C<\/jats:italic>mutation and 300 unrelated, ethnically matched healthy individuals used as controls were genotyped for<jats:italic>MEF2C<\/jats:italic>. The functional effect of the mutant MEF2C protein was characterized in contrast to its wild-type counterpart by using a dual-luciferase reporter assay system.<\/jats:p><\/jats:sec><jats:sec id=\"j_cclm-2017-0461_s_997_w2aab3b7c60b1b6b1aab1c17b3Aa\"><jats:title>Results:<\/jats:title><jats:p>A novel heterozygous MEF2C mutation, p.Y157X, was detected in an index patient with adult-onset DCM. Genetic screen of the mutation carrier\u2019s family members revealed that the mutation co-segregated with DCM, which was transmitted as an autosomal dominant trait with complete penetrance. The non-sense mutation was absent in 300 control individuals. Functional analyses unveiled that the mutant MEF2C protein had no transcriptional activity. Furthermore, the mutation abolished the synergistic transactivation between MEF2C and GATA4 as well as HAND1, two other transcription factors that have been associated with DCM.<\/jats:p><\/jats:sec><jats:sec id=\"j_cclm-2017-0461_s_996_w2aab3b7c60b1b6b1aab1c17b4Aa\"><jats:title>Conclusions:<\/jats:title><jats:p>This study indicates<jats:italic>MEF2C<\/jats:italic>as a new gene responsible for human DCM, which provides novel insight into the mechanism underpinning DCM, suggesting potential implications for development of innovative prophylactic and therapeutic strategies for DCM, the most prevalent form of primary myocardial disease.<\/jats:p><\/jats:sec>","DOI":"10.1515\/cclm-2017-0461","type":"journal-article","created":{"date-parts":[[2017,9,13]],"date-time":"2017-09-13T10:00:51Z","timestamp":1505296851000},"page":"502-511","source":"Crossref","is-referenced-by-count":21,"title":["MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy"],"prefix":"10.1515","volume":"56","author":[{"given":"Fang","family":"Yuan","sequence":"first","affiliation":[{"name":"Department of Emergency Medicine, Shanghai Tongren Hospital , Shanghai Jiao Tong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhao-Hui","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Tongren Hospital , Shanghai Jiao Tong University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing-Hua","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Renji Hospital, School of Medicine , Shanghai Jiao Tong University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Min","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Jing\u2019an District Central Hospital , Fudan University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Jing\u2019an District Central Hospital , Fudan University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruo-Gu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Chest Hospital , Shanghai Jiao Tong University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Chest Hospital , Shanghai Jiao Tong University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Chest Hospital , Shanghai Jiao Tong University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Yu","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Chest Hospital , Shanghai Jiao Tong University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Chest Hospital , Shanghai Jiao Tong University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Feng","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Chest Hospital , Shanghai Jiao Tong University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Chest Hospital , Shanghai Jiao Tong University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing-Biao","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Chest Hospital , Shanghai Jiao Tong University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-Kai","family":"Qu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Chest Hospital , Shanghai Jiao Tong University , 241 West Huaihai Road , Shanghai 200030 , P.R. China , Phone: +86 21 62821990, Fax: +86 21 62821105"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Qing","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Chest Hospital , Shanghai Jiao Tong University , 241 West Huaihai Road , Shanghai 200030 , P.R. China , Phone: +86 21 62821990, Fax: +86 21 62821105"},{"name":"Department of Cardiovascular Research Laboratory, Shanghai Chest Hospital , Shanghai Jiao Tong University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2017,9,13]]},"reference":[{"key":"2021021223263600791_j_cclm-2017-0461_ref_001_w2aab3b7c60b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Weintraub RG, Semsarian C, Macdonald P. Dilated cardiomyopathy. Lancet 2017;390:400\u201314","DOI":"10.1016\/S0140-6736(16)31713-5"},{"key":"2021021223263600791_j_cclm-2017-0461_ref_002_w2aab3b7c60b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Cho KW, Lee J, Kim Y. Genetic variations leading to familial dilated cardiomyopathy. 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