{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T00:27:20Z","timestamp":1771460840820,"version":"3.50.1"},"reference-count":39,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">MYBPC<\/jats:styled-content>3<\/jats:italic> mutations have been described in dilated cardiomyopathy (<jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>) and hypertrophic cardiomyopathy (<jats:styled-content style=\"fixed-case\">HCM<\/jats:styled-content>). A mutation, c.3373G&gt;A, has been reported to cause autosomal recessive form of <jats:styled-content style=\"fixed-case\">HCM<\/jats:styled-content>. Here, we report that this mutation can cause autosomal dominant form of <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Next\u2010generation sequencing using targeted panel of a total of 23 candidate genes and following Sanger sequencing was applied to detect causal mutations of <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>. Computational analyses were also performed using available software tools. In silico structural and functional analyses including protein modeling and prediction were done for the mutated <jats:italic><jats:styled-content style=\"fixed-case\">MYBPC<\/jats:styled-content>3<\/jats:italic> protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results and Conclusion<\/jats:title><jats:p>Targeted sequencing showed one variant c.3373G&gt;A (p.Val1125Met) in the studied family following autosomal dominant inheritance. Computational programs predicted a high score of pathogenicity. Secondary structure of the region surrounding p.Val1125 was changed to a shortened beta\u2010strand based on prediction of I\u2010<jats:styled-content style=\"fixed-case\">TASSER<\/jats:styled-content> and Phyre2 servers with high confidence value for the mutation. <jats:styled-content style=\"fixed-case\">cMyBP<\/jats:styled-content>\u2010C protein was modeled to 3dmkA. Our findings suggest that one single mutation of <jats:italic><jats:styled-content style=\"fixed-case\">MYBPC<\/jats:styled-content>3<\/jats:italic> may have different effects on the cellular mechanisms based of its zygosity. Various factors might be considered for explaining this phenomenon. This gene may have an important role in Iranian <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">HCM<\/jats:styled-content> patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.22419","type":"journal-article","created":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T07:16:45Z","timestamp":1519888605000},"source":"Crossref","is-referenced-by-count":7,"title":["Genotypic effect of a mutation of the <i><scp>MYBPC<\/scp>3<\/i> gene and two phenotypes with different patterns of inheritance"],"prefix":"10.1002","volume":"32","author":[{"given":"Nejat","family":"Mahdieh","sequence":"first","affiliation":[{"name":"Cardiogenetics Research Laboratory Rajaie Cardiovascular Medical and Research Center Iran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Hosseini Moghaddam","sequence":"additional","affiliation":[{"name":"Cardiogenetics Research 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