{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:30:27Z","timestamp":1791203427349,"version":"4.2.0"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL109942"],"award-info":[{"award-number":["R01HL109942"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1 RR024148"],"award-info":[{"award-number":["UL1 RR024148"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:p>Marfan syndrome (<jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content>) due to mutations in <jats:italic><jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> is a known cause of thoracic aortic aneurysms and acute aortic dissections (<jats:styled-content style=\"fixed-case\">TAAD<\/jats:styled-content>) associated with pleiotropic manifestations. Genetic predisposition to <jats:styled-content style=\"fixed-case\">TAAD<\/jats:styled-content> can also be inherited in families in the absence of syndromic features, termed familial <jats:styled-content style=\"fixed-case\">TAAD<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">FTAAD<\/jats:styled-content>), and several causative genes have been identified to date. <jats:italic><jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> mutations can also be identified in <jats:styled-content style=\"fixed-case\">FTAAD<\/jats:styled-content> families, but the frequency of these mutations has not been established. We performed exome sequencing of 183 <jats:styled-content style=\"fixed-case\">FTAAD<\/jats:styled-content> families and identified pathogenic <jats:italic><jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> variants in five (2.7%) of these families. We also identified eight additional <jats:italic><jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> rare variants that could not be unequivocally classified as disease\u2010causing in six families. <jats:italic><jats:styled-content style=\"fixed-case\">FBN1<\/jats:styled-content><\/jats:italic> sequencing should be considered in individuals with <jats:styled-content style=\"fixed-case\">FTAAD<\/jats:styled-content> even without significant systemic features of <jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12702","type":"journal-article","created":{"date-parts":[[2015,12,1]],"date-time":"2015-12-01T02:24:40Z","timestamp":1448936680000},"page":"719-723","source":"Crossref","is-referenced-by-count":35,"title":["Pathogenic <i>FBN1<\/i> variants in familial thoracic aortic aneurysms and dissections"],"prefix":"10.1111","volume":"89","author":[{"given":"E.S.","family":"Regalado","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine University of Texas Health Science Center at Houston (UTHealth)  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.C.","family":"Guo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine University of Texas Health Science Center at Houston (UTHealth)  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.L.P.","family":"Santos\u2010Cortez","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Hostetler","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine 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