{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T05:19:51Z","timestamp":1759814391886,"version":"3.41.2"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,3,5]],"date-time":"2019-03-05T00:00:00Z","timestamp":1551744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Previous studies showed that the <jats:italic>fibrillin\u20101<\/jats:italic> gene (<jats:italic>FBN1<\/jats:italic>) is responsible for Marfan sydrome (MFS) pathogenesis. This study is conducted to screen for mutations in the <jats:italic>FBN1<\/jats:italic> gene in Chinese families with MFS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eight families with MFS and related disorder were recruited in this study. All available family members underwent complete physical, ophthalmic, and cardiovascular examination. Mutation screening was performed using targeted next\u2010generation sequencing. Candidate variants were amplified by polymerase chain reaction and verified by direct Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Four novel heterozygous mutations in <jats:italic>FBN1<\/jats:italic>, including c.2861G&gt;T (p.R954L), c.4087G&gt;A (p.D1363N), c.4987T&gt;G (p.C1663G), and c.5032T&gt;G (p.Y1678D), as well as four known mutations, c.3617G&gt;A (p.G1206D), c.4460A&gt;G (p.D1487G), c.4588C&gt;T (p.R1530C), and c.718C&gt;T (p.R240C) were identified. Affected patients from each family were found to carry one of the mutations, whereas the unaffected members and 1,086 normal controls were not. Each mutation was found to be cosegregated with MFS phenotype and related disorder in each family. Multiple sequence alignment of the human fibrillin\u20101 protein showed that these mutations occurred in a highly conserved region among different species.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Eight <jats:italic>FBN1<\/jats:italic> mutations were identified in Chinese families with MFS and related disorder. These data expands <jats:italic>FBN1 <\/jats:italic>mutation spectrum and further emphasizes the role of <jats:italic>FBN1<\/jats:italic> in the pathogenesis of MFS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.594","type":"journal-article","created":{"date-parts":[[2019,3,6]],"date-time":"2019-03-06T06:00:12Z","timestamp":1551852012000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Mutation screening in the <i>FBN1<\/i> gene responsible for Marfan syndrome and related disorder in Chinese families"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2763-6829","authenticated-orcid":false,"given":"Bo","family":"Gong","sequence":"first","affiliation":[{"name":"Sichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine Sichuan Academy of Medical Sciences and Sichuan Provincial People\u2019s Hospital, School of Medicine, University of Electronic 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