{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T18:42:51Z","timestamp":1787510571792,"version":"build-2736575974"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"7","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2015,7,17]]},"abstract":"\n Background<\/jats:title>\n \n \n MYBPC<\/jats:styled-content>\n 3\n <\/jats:italic>\n dysfunctions have been proven to induce dilated cardiomyopathy, hypertrophic cardiomyopathy, and\/or left ventricular noncompaction; however, the genotype\u2013phenotype correlation between\n \n MYBPC<\/jats:styled-content>\n 3\n <\/jats:italic>\n and restrictive cardiomyopathy (\n RCM<\/jats:styled-content>\n ) has not been established. The newly developed next\u2010generation sequencing method is capable of broad genomic\n DNA<\/jats:styled-content>\n sequencing with high throughput and can help explore novel correlations between genetic variants and cardiomyopathies.\n <\/jats:p>\n <\/jats:sec>\n \n Methods and Results<\/jats:title>\n \n A proband from a multigenerational family with 3 live patients and 1 unrelated patient with clinical diagnoses of\n RCM<\/jats:styled-content>\n underwent a next\u2010generation sequencing workflow based on a custom AmpliSeq panel, including 64 candidate pathogenic genes for cardiomyopathies, on the Ion Personal Genome Machine high\u2010throughput sequencing benchtop instrument. The selected panel contained a total of 64 genes that were reportedly associated with inherited cardiomyopathies. All patients fulfilled strict criteria for\n RCM<\/jats:styled-content>\n with clinical characteristics, echocardiography, and\/or cardiac magnetic resonance findings. The multigenerational family with 3 adult\n RCM<\/jats:styled-content>\n patients carried an identical nonsense\n \n MYBPC<\/jats:styled-content>\n 3\n <\/jats:italic>\n mutation, and the unrelated patient carried a missense mutation in the\n \n MYBPC<\/jats:styled-content>\n 3\n <\/jats:italic>\n gene. All of these results were confirmed by the Sanger sequencing method.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n This study demonstrated that\n \n MYBPC<\/jats:styled-content>\n 3\n <\/jats:italic>\n gene mutations, revealed by next\u2010generation sequencing, were associated with familial and sporadic\n RCM<\/jats:styled-content>\n patients. It is suggested that the next\u2010generation sequencing platform with a selected panel provides a highly efficient approach for molecular diagnosis of hereditary and idiopathic\n RCM<\/jats:styled-content>\n and helps build new genotype\u2013phenotype correlations.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1161\/jaha.115.001879","type":"journal-article","created":{"date-parts":[[2018,9,14]],"date-time":"2018-09-14T15:04:02Z","timestamp":1536937442000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":39,"title":["Novel Phenotype\u2013Genotype Correlations of Restrictive Cardiomyopathy With Myosin\u2010Binding Protein C (\n MYBPC3<\/i>\n ) Gene Mutations Tested by Next\u2010Generation Sequencing"],"prefix":"10.1161","volume":"4","author":[{"given":"Wei","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao\u2010Xia","family":"Lu","sequence":"additional","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi\u2010Ning","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, 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