{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:44:11Z","timestamp":1787013851249,"version":"build-2736575974"},"reference-count":44,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T00:00:00Z","timestamp":1620172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2016A030313279"],"award-info":[{"award-number":["2016A030313279"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Noninvasive Electrocardiol"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The whole exome sequencing (WES) with targeted gene analysis is an effective diagnostic tool for cardiomyopathy. The early\u2010onset sudden cardiac death (SCD) was commonly associated with dilated cardiomyopathy (DCM) induced by pathogenic genetic mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In a Chinese Han family, the patient of 24\u00a0years old occurred with early\u2010onset and DCM and died of SCD associated with ICD storms induced by repetitive ventricular tachycardia\/fibrillation (VT\/F). Genomic DNA samples of peripheral blood were conducted for WES and Sanger sequence. Then, we performed bioinformatics analysis for 200 genes susceptible to cardiomyopathies and arrhythmias. Further, we analyzed how the potential pathogenic mutations affecting the secondary structure, hydrophobicity, and phosphorylation of amino acids, protein properties, and their joint pathogenicity by ProtParam, SOPMA, and ORVAL algorisms. The protein\u2013protein interaction was analyzed by STRING algorism.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The mutations of LDB3 p.M456R, MYH6 p.S180Y, and SYNE1 p.S4607F were identified as \u201cDamaging\/Deleterious.\u201d The SYNE1 (p.S4607F) increased one of alpha helix and decreased one of beta sheet. The LDB3 (p.M456R) reduced one of beta sheet and increased one of beta turn. The MYH6 (p.S180Y) decreased two of beta sheets and four of beta turns, but significantly increased twelve coils. The hydrophobicity of amino acid residues and their adjacent sequences were decreased by LDB3 (p.M456R) and MYH6 (p.S180Y), and significantly increased by SYNE1 (p.S4607F). The mutations of LDB3 (p.M456R), SYNE1 (p.S4607F), and MYH6 (p.S180Y) resulted in the phosphorylation changes of the corresponding amino acid sites or the nearby amino acid sites. The pairwise combinations of LDB3, MYH6, and SYNE1 mutations have the high probability of causing disease, especially the highest probability for SYNE1 and LDB3 mutations. There was obviously indirect interaction of the proteins encoded by SYNE1, LDB3, and MYH6.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The multiple heterozygous mutations of SYNE1, LDB3, and MYH6 may be associated with young and early\u2010onset of DCM and SCD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/anec.12840","type":"journal-article","created":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T05:38:57Z","timestamp":1620193137000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Young and early\u2010onset dilated cardiomyopathy with malignant ventricular arrhythmia and sudden cardiac death induced by the heterozygous LDB3, MYH6, and SYNE1 missense mutations"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9921-3692","authenticated-orcid":false,"given":"Ting","family":"Zhao","sequence":"first","affiliation":[{"name":"The First Hospital Affiliated to Jinan University The First People's Hospital of Guangzhou Guangzhou China"},{"name":"Department of Cardiology The Cardiovascular Center Interventional Medical Center Guangdong Provincial Key Laboratory of Biomedical Imaging and Guangdong Provincial Engineering Research Center of Molecular Imaging The Fifth Affiliated Hospital Sun Yat\u2010sen University Zhuhai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuting","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Cardiology The Cardiovascular Center Interventional Medical Center Guangdong Provincial Key Laboratory of Biomedical Imaging and Guangdong Provincial Engineering Research Center of Molecular Imaging The Fifth Affiliated Hospital Sun Yat\u2010sen University Zhuhai China"},{"name":"BGI Education Center University of Chinese Academy of Sciences Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuoquan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology The Cardiovascular Center Interventional Medical Center Guangdong Provincial Key Laboratory of Biomedical Imaging and Guangdong Provincial Engineering Research Center of Molecular Imaging The Fifth Affiliated Hospital Sun Yat\u2010sen University Zhuhai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianzhong","family":"Xian","sequence":"additional","affiliation":[{"name":"Department of Cardiology The Cardiovascular Center Interventional Medical Center Guangdong Provincial Key Laboratory of Biomedical Imaging and Guangdong Provincial Engineering Research Center of Molecular Imaging The Fifth Affiliated Hospital Sun Yat\u2010sen University Zhuhai 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