{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T22:57:10Z","timestamp":1768085830779,"version":"3.49.0"},"reference-count":50,"publisher":"Walter de Gruyter GmbH","issue":"5","funder":[{"name":"Basic Research Project of Shanghai, China","award":["20JC1418800"],"award-info":[{"award-number":["20JC1418800"]}]},{"name":"Science and Technology Support Project of Medical Guidance, Shanghai, China","award":["19411971900"],"award-info":[{"award-number":["19411971900"]}]},{"name":"Clinical Research Project of Tongji Hospital, Tongji University, Shanghai, China","award":["ITJ(QN)1803"],"award-info":[{"award-number":["ITJ(QN)1803"]}]},{"name":"Experimental Animal Project of Shanghai, China","award":["201409004400"],"award-info":[{"award-number":["201409004400"]}]},{"name":"Program of Outstanding Young Scientists of Tongji Hospital, Tongji University, Shanghai, China","award":["HBRC1803"],"award-info":[{"award-number":["HBRC1803"]}]},{"name":"Clinical Medicine Program of Shanghai, China","award":["19401970200"],"award-info":[{"award-number":["19401970200"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,4,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_cclm-2020-1318_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Dilated cardiomyopathy (DCM) represents the most frequent form of cardiomyopathy, leading to heart failure, cardiac arrhythmias and death. Accumulating evidence convincingly demonstrates the crucial role of genetic defects in the pathogenesis of DCM, and over 100 culprit genes have been implicated with DCM. However, DCM is of substantial genetic heterogeneity, and the genetic determinants underpinning DCM remain largely elusive.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2020-1318_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Whole-exome sequencing and bioinformatical analyses were implemented in a consanguineous Chinese family with DCM. A total of 380 clinically annotated control individuals and 166 more DCM index cases then underwent Sanger sequencing analysis for the identified genetic variation. The functional characteristics of the variant were delineated by utilizing a dual-luciferase assay system.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2020-1318_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A heterozygous variation in the <jats:italic>MEF2A<\/jats:italic> gene (encoding myocyte enhancer factor 2A, a transcription factor pivotal for embryonic cardiogenesis and postnatal cardiac adaptation), NM_001365204.1: c.718G&gt;T; p. (Gly240*), was identified, and verified by Sanger sequencing to segregate with autosome-dominant DCM in the family with complete penetrance. The nonsense variation was neither detected in\u00a0760 control chromosomes nor found in 166 more DCM probands. Functional analyses revealed that the variant lost transactivation on the validated target genes <jats:italic>MYH6<\/jats:italic> and <jats:italic>FHL2<\/jats:italic>, both causally linked to DCM. Furthermore, the variation nullified the synergistic activation between MEF2A and GATA4, another key transcription factor involved in DCM.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2020-1318_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The findings firstly indicate that <jats:italic>MEF2A<\/jats:italic> loss-of-function variation predisposes to DCM in humans, providing novel insight into the molecular mechanisms of DCM and suggesting potential implications for genetic testing and prognostic evaluation of DCM patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/cclm-2020-1318","type":"journal-article","created":{"date-parts":[[2020,12,5]],"date-time":"2020-12-05T08:11:54Z","timestamp":1607155914000},"page":"955-963","source":"Crossref","is-referenced-by-count":12,"title":["Detection and functional characterization of a novel <i>MEF2A<\/i> variation responsible for familial dilated cardiomyopathy"],"prefix":"10.1515","volume":"59","author":[{"given":"Qi","family":"Qiao","sequence":"first","affiliation":[{"name":"Department of Cardiology , Shanghai Fifth People\u2032s Hospital, Fudan University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cui-Mei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Tongji Hospital, Tongji University School of Medicine , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen-Xi","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Shanghai Fifth People\u2032s Hospital, Fudan University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia-Ning","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Shanghai Fifth People\u2032s Hospital, Fudan University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Han","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Shanghai Fifth People\u2032s Hospital, Fudan 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":"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":"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":"Ying-Jia","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Shanghai Fifth People\u2032s Hospital, Fudan University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Qing","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Shanghai Fifth People\u2032s Hospital, Fudan University , Shanghai , P.R. China"},{"name":"Cardiovascular Research Laboratory, Shanghai Fifth People\u2032s Hospital, Fudan University , Shanghai , P.R. China"},{"name":"Center Laboratory, Shanghai Fifth People\u2032s Hospital, Fudan University , Shanghai , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,12,3]]},"reference":[{"key":"2023033113430157609_j_cclm-2020-1318_ref_001","doi-asserted-by":"crossref","unstructured":"Marrow, BA, Cook, SA, Prasad, SK, McCann, GP. Emerging techniques for risk stratification in nonischemic dilated cardiomyopathy: JACC review topic of the week. J Am Coll Cardiol 2020;75:1196\u2013207. https:\/\/doi.org\/10.1016\/j.jacc.2019.12.058.","DOI":"10.1016\/j.jacc.2019.12.058"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_002","doi-asserted-by":"crossref","unstructured":"Merlo, M, Cannat\u00e0, A, Gobbo, M, Stolfo, D, Elliott, PM, Sinagra, G. Evolving concepts in dilated cardiomyopathy. Eur J Heart Fail 2018;20:228\u201339. https:\/\/doi.org\/10.1002\/ejhf.1103.","DOI":"10.1002\/ejhf.1103"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_003","doi-asserted-by":"crossref","unstructured":"Cannat\u00e0, A, De Angelis, G, Boscutti, A, Normand, C, Artico, J, Gentile, P, et al.. Arrhythmic risk stratification in non-ischaemic dilated cardiomyopathy beyond ejection fraction. Heart 2020;106:656\u201364. https:\/\/doi.org\/10.1136\/heartjnl-2019-315942.","DOI":"10.1136\/heartjnl-2019-315942"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_004","doi-asserted-by":"crossref","unstructured":"Stolfo, D, Albani, S, Savarese, G, Barbati, G, Ramani, F, Gigli, M, et al.. Risk of sudden cardiac death in New York Heart Association class I patients with dilated cardiomyopathy: a competing risk analysis. Int J Cardiol 2020;307:75\u201381. https:\/\/doi.org\/10.1016\/j.ijcard.2020.02.025.","DOI":"10.1016\/j.ijcard.2020.02.025"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_005","doi-asserted-by":"crossref","unstructured":"Tabish, AM, Azzimato, V, Alexiadis, A, Buyandelger, B, Kn\u00f6ll, R. Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy. 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Hum Genet 2020;139:1443\u201354. https:\/\/doi.org\/10.1007\/s00439-020-02188-6.","DOI":"10.1007\/s00439-020-02188-6"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_011","doi-asserted-by":"crossref","unstructured":"Almomani, R, Herkert, JC, Posafalvi, A, Post, JG, Boven, LG, van der Zwaag, PA, et al.. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy. J Med Genet 2020;57:23\u201330. https:\/\/doi.org\/10.1136\/jmedgenet-2019-106330.","DOI":"10.1136\/jmedgenet-2019-106330"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_012","doi-asserted-by":"crossref","unstructured":"Cowan, JR, Salyer, L, Wright, NT, Kinnamon, DD, Amaya, P, Jordan, E, et al.. SOS1 gain of function variants in dilated cardiomyopathy. 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Eur J Med Genet 2020;63:103827. https:\/\/doi.org\/10.1016\/j.ejmg.2019.103827.","DOI":"10.1016\/j.ejmg.2019.103827"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_015","doi-asserted-by":"crossref","unstructured":"Ahrens-Nicklas, RC, Pappas, CT, Farman, GP, Mayfield, RM, Larrinaga, TM, Medne, L, et al.. Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: a novel mechanism of neonatal dilated cardiomyopathy. Sci Adv 2019;5:eaax2066. https:\/\/doi.org\/10.1126\/sciadv.aax2066.","DOI":"10.1126\/sciadv.aax2066"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_016","doi-asserted-by":"crossref","unstructured":"Horvat, C, Johnson, R, Lam, L, Munro, J, Mazzarotto, F, Roberts, AM, et al.. A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy. 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Eur J Med Genet 2019;62:103540. https:\/\/doi.org\/10.1016\/j.ejmg.2018.09.007.","DOI":"10.1016\/j.ejmg.2018.09.007"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_025","doi-asserted-by":"crossref","unstructured":"Elliott, P, O\u2019Mahony, C, Syrris, P, Evans, A, Rivera Sorensen, C, Sheppard, MN, et al.. Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. Circ Cardiovasc Genet 2010;3:314\u201322. https:\/\/doi.org\/10.1161\/circgenetics.110.937805.","DOI":"10.1161\/CIRCGENETICS.110.937805"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_026","doi-asserted-by":"crossref","unstructured":"Wu, SH, Wang, XH, Xu, YJ, Gu, JN, Yang, CX, Qiao, Q, et al.. ISL1 loss-of-function variation causes familial atrial fibrillation. Eur J Med Genet 2020;63:104029. https:\/\/doi.org\/10.1016\/j.ejmg.2020.104029.","DOI":"10.1016\/j.ejmg.2020.104029"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_027","doi-asserted-by":"crossref","unstructured":"Fan, LL, Ding, DB, Huang, H, Chen, YQ, Jin, JY, Xia, K, et al.. A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient. Clin Chem Lab Med 2019;57:532\u20139. https:\/\/doi.org\/10.1515\/cclm-2018-0578.","DOI":"10.1515\/cclm-2018-0578"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_028","doi-asserted-by":"crossref","unstructured":"He, HJ, Das, B, Cleveland, MH, Chen, L, Camalier, CE, Liu, LC, et al.. Development and interlaboratory evaluation of a NIST Reference Material RM 8366 for EGFR and MET gene copy number measurements. Clin Chem Lab Med 2019;57:1142\u201352. https:\/\/doi.org\/10.1515\/cclm-2018-1306.","DOI":"10.1515\/cclm-2018-1306"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_029","doi-asserted-by":"crossref","unstructured":"Wang, L, Fan, C, Topol, SE, Topol, EJ, Wang, Q. Mutation of MEF2A in an inherited disorder with features of coronary artery disease. Science 2003;302:1578\u201381. https:\/\/doi.org\/10.1126\/science.1088477.","DOI":"10.1126\/science.1088477"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_030","doi-asserted-by":"crossref","unstructured":"Yuan, F, Qiu, ZH, Wang, XH, Sun, YM, Wang, J, Li, RG, et al.. MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy. Clin Chem Lab Med 2018;56:502\u201311. https:\/\/doi.org\/10.1515\/cclm-2017-0461.","DOI":"10.1515\/cclm-2017-0461"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_031","doi-asserted-by":"crossref","unstructured":"Yu, YT. Distinct domains of myocyte enhancer binding factor-2A determining nuclear localization and cell type-specific transcriptional activity. J Biol Chem 1996;271:24675\u201383.","DOI":"10.1016\/S0021-9258(18)40058-0"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_032","doi-asserted-by":"crossref","unstructured":"Lisi, RD, Millino, C, Calabria, E, Altruda, F, Schiaffino, S, Ausoni, S. Combinatorial cis-acting elements control tissue-specific activation of the cardiac troponin I gene in\u00a0vitro and in\u00a0vivo. J Biol Chem 1998;273:25371\u201380. https:\/\/doi.org\/10.1074\/jbc.273.39.25371.","DOI":"10.1074\/jbc.273.39.25371"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_033","doi-asserted-by":"crossref","unstructured":"Lee, Y, Nadal-Ginard, B, Mahdavi, V, Izumo, S. Myocyte-specific enhancer factor 2 and thyroid hormone receptor associate and synergistically activate the alpha-cardiac myosin heavy-chain gene. Mol Cell Biol 1997;17:2745\u201355. https:\/\/doi.org\/10.1128\/mcb.17.5.2745.","DOI":"10.1128\/MCB.17.5.2745"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_034","doi-asserted-by":"crossref","unstructured":"Ewen, EP, Snyder, CM, Wilson, M, Desjardins, D, Naya, FJ. The Mef2A transcription factor coordinately regulates a costamere gene program in cardiac muscle. J Biol Chem 2011;286:29644\u201353. https:\/\/doi.org\/10.1074\/jbc.m111.268094.","DOI":"10.1074\/jbc.M111.268094"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_035","doi-asserted-by":"crossref","unstructured":"Schlesinger, J, Schueler, M, Grunert, M, Fischer, JJ, Zhang, Q, Krueger, T, et al.. The cardiac transcription network modulated by Gata4, Mef2a, Nkx2.5, Srf, histone modifications, and microRNAs. PLoS Genet 2011;7:e1001313. https:\/\/doi.org\/10.1371\/journal.pgen.1001313.","DOI":"10.1371\/journal.pgen.1001313"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_036","doi-asserted-by":"crossref","unstructured":"Li, RG, Li, L, Qiu, XB, Yuan, F, Xu, L, Li, X, et al.. GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy. Biochem Biophys Res Commun 2013;439:591\u20136. https:\/\/doi.org\/10.1016\/j.bbrc.2013.09.023.","DOI":"10.1016\/j.bbrc.2013.09.023"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_037","doi-asserted-by":"crossref","unstructured":"Hanley, A, Walsh, KA, Joyce, C, McLellan, MA, Clauss, S, Hagen, A, et al.. Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families. BMC Med Genet 2016;17:83. https:\/\/doi.org\/10.1186\/s12881-016-0347-6.","DOI":"10.1186\/s12881-016-0347-6"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_038","doi-asserted-by":"crossref","unstructured":"Parlakian, A, Charvet, C, Escoubet, B, Mericskay, M, Molkentin, JD, Gary-Bobo, G, et al.. Temporally controlled onset of dilated cardiomyopathy through disruption of the SRF gene in adult heart. Circulation 2005;112:2930\u20139. https:\/\/doi.org\/10.1161\/circulationaha.105.533778.","DOI":"10.1161\/CIRCULATIONAHA.105.533778"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_039","doi-asserted-by":"crossref","unstructured":"Nakao, K, Minobe, W, Roden, R, Bristow, MR, Leinwand, LA. Myosin heavy chain gene expression in human heart failure. 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Circulation 2006;114:298\u2013308. https:\/\/doi.org\/10.1161\/circulationaha.105.608968.","DOI":"10.1161\/CIRCULATIONAHA.105.608968"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_046","doi-asserted-by":"crossref","unstructured":"Postma, AV, van de Meerakker, JB, Mathijssen, IB, Barnett, P, Christoffels, VM, Ilgun, A, et al.. A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. Circ Res 2008;102:1433\u201342. https:\/\/doi.org\/10.1161\/circresaha.107.168294.","DOI":"10.1161\/CIRCRESAHA.107.168294"},{"key":"2023033113430157609_j_cclm-2020-1318_ref_047","doi-asserted-by":"crossref","unstructured":"Posch, MG, Gramlich, M, Sunde, M, Schmitt, KR, Lee, SH, Richter, S, et al.. A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. 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