{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T10:56:20Z","timestamp":1761648980341,"version":"build-2065373602"},"reference-count":61,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Health and welfare surcharge of tobacco products","award":["MOHW110-TDU-B-212-144014","MOHW110-TDU-B-212-144020"],"award-info":[{"award-number":["MOHW110-TDU-B-212-144014","MOHW110-TDU-B-212-144020"]}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["MOST109-2314-B-038-131","MOST110-2628-B-038-020"],"award-info":[{"award-number":["MOST109-2314-B-038-131","MOST110-2628-B-038-020"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Taipei Medical University, Taiwan","award":["12310-106079"],"award-info":[{"award-number":["12310-106079"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Marfan syndrome (MFS) is a rare disease that affects connective tissue, which causes abnormalities in several organ systems including the heart, eyes, bones, and joints. The autosomal dominant disorder was found to be strongly associated with FBN1, TGFBR1, and TGFBR2 mutations. Although multiple genetic mutations have been reported, data from Asian populations are still limited. As a result, we utilized the whole exome sequencing (WES) technique to identify potential pathogenic variants of MFS in a Taiwan cohort. In addition, a variety of annotation databases were applied to identify the biological functions as well as the potential mechanisms of candidate genes. In this study, we confirmed the pathogenicity of FBN1 to MFS. Our results indicated that TTN and POMT1 may be likely related to MFS phenotypes. Furthermore, we found nine unique variants highly shared in a MFS family cohort, of which eight are novel variants worthy of further investigation.<\/jats:p>","DOI":"10.3390\/jpm12020198","type":"journal-article","created":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T09:59:21Z","timestamp":1643709561000},"page":"198","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0247-1984","authenticated-orcid":false,"given":"Min-Rou","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0353-9744","authenticated-orcid":false,"given":"Che-Mai","family":"Chang","sequence":"additional","affiliation":[{"name":"Ph.D. Program in Medical Biotechnology, College of Medical Science and Technology, Taipei Medical University, Taipei 110, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7918-8218","authenticated-orcid":false,"given":"Jafit","family":"Ting","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0375-1427","authenticated-orcid":false,"given":"Jan-Gowth","family":"Chang","sequence":"additional","affiliation":[{"name":"Center for Precision Medicine, China Medical University Hospital, Taichung 404, Taiwan"},{"name":"School of Medicine, China Medical University, Taichung 404, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7693-5959","authenticated-orcid":false,"given":"Wan-Hsuan","family":"Chou","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kuei-Jung","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gloria","family":"Cheng","sequence":"additional","affiliation":[{"name":"USC Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA 90007, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsiao-Huang","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Surgery, School of Medicine, Taipei Medical University, Taipei 110, Taiwan"},{"name":"Division of Cardiovascular Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei 112, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Chiao","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan"},{"name":"Master Program for Clinical Pharmacogenomics and Pharmacoproteomics, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan"},{"name":"Integrative Research Center in Critical Care, Wan Fang Hospital, Taipei Medical University, Taipei 116, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.mayocp.2013.08.022","article-title":"Epidemiological profile of Marfan syndrome in a general population: A national database study","volume":"89","author":"Chiu","year":"2014","journal-title":"Mayo Clin. 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