{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T07:10:39Z","timestamp":1794381039576,"version":"4.9.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,6,8]],"date-time":"2017-06-08T00:00:00Z","timestamp":1496880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005357","name":"Agent\u00fara na Podporu V\u00fdskumu a V\u00fdvoja","doi-asserted-by":"publisher","award":["APVV\u20100644\u201012"],"award-info":[{"award-number":["APVV\u20100644\u201012"]}],"id":[{"id":"10.13039\/501100005357","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["ITMS 26220120041"],"award-info":[{"award-number":["ITMS 26220120041"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>As the leading cause of congestive heart failure, cardiomyopathy represents a\u00a0heterogenous group of heart muscle disorders. Despite considerable progress being made in the genetic diagnosis of cardiomyopathy by detection of the mutations in the most prevalent cardiomyopathy genes, the cause remains unsolved in many patients. High\u2010throughput mutation screening in the disease genes for cardiomyopathy is now possible because of using target enrichment followed by next\u2010generation sequencing. The aim of the study was to analyze a panel of genes associated with dilated or hypertrophic cardiomyopathy based on previously published results in order to identify the subjects at risk.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The method of next\u2010generation sequencing by IlluminaHiSeq 2500 platform was used to detect sequence variants in 16 individuals diagnosed with dilated or hypertrophic cardiomyopathy. Detected variants were filtered and the functional impact of amino acid changes was predicted by computational programs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> samples of the 16 patients were analyzed by whole exome sequencing. We identified six nonsynonymous variants that were shown to be pathogenic in all used prediction softwares: <jats:italic>rs3744998<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">EPG<\/jats:styled-content>5<\/jats:italic>), <jats:italic>rs11551768<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">MGME<\/jats:styled-content>1<\/jats:italic>), <jats:italic>rs148374985<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">MURC<\/jats:styled-content><\/jats:italic>), <jats:italic>rs78461695<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">PLEC<\/jats:styled-content><\/jats:italic>), <jats:italic>rs17158558<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">RET<\/jats:styled-content><\/jats:italic>) and <jats:italic>rs2295190<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">SYNE<\/jats:styled-content>1<\/jats:italic>). Two of the analyzed sequence variants had minor allele frequency (<jats:styled-content style=\"fixed-case\">MAF<\/jats:styled-content>)&lt;0.01: <jats:italic>rs148374985<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">MURC<\/jats:styled-content><\/jats:italic>), <jats:italic>rs34580776<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">MYBPC<\/jats:styled-content>3<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our data support the potential role of the detected variants in pathogenesis of dilated or hypertrophic cardiomyopathy; however, the possibility that these variants might not be true disease\u2010causing variants but are susceptibility alleles that require additional mutations or injury to cause the clinical phenotype of disease must be considered.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.22254","type":"journal-article","created":{"date-parts":[[2017,6,8]],"date-time":"2017-06-08T11:22:48Z","timestamp":1496920968000},"source":"Crossref","is-referenced-by-count":15,"title":["Analysis of selected genes associated with cardiomyopathy by next\u2010generation sequencing"],"prefix":"10.1002","volume":"32","author":[{"given":"Viktoria","family":"Szabadosova","sequence":"first","affiliation":[{"name":"Department of Biology, Faculty of Humanities and Natural Sciences University of Presov  Presov Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iveta","family":"Boronova","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Humanities and Natural Sciences University of Presov  Presov Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Ferenc","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Humanities and Natural Sciences University of Presov  Presov Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iveta","family":"Tothova","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Humanities and Natural Sciences University of Presov  Presov Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jarmila","family":"Bernasovska","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Humanities and Natural Sciences University of Presov  Presov Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5398-3205","authenticated-orcid":false,"given":"Michaela","family":"Zigova","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Humanities and Natural Sciences University of Presov  Presov Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Kmec","sequence":"additional","affiliation":[{"name":"Cardiocentre Faculty Hospital of J.A. 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