{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T22:14:20Z","timestamp":1791670460991,"version":"4.3.4"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,1,15]],"date-time":"2010-01-15T00:00:00Z","timestamp":1263513600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aortic aneurysm and dissection cause significant morbidity and mortality. There are several known single gene disorders that predispose to isolated aortic disease and eventually aneurysm and dissection. <jats:italic>FBN1<\/jats:italic> mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection. In this report, we describe three patients who presented with primary descending thoracic aortic dissection and who were found to have an <jats:italic>FBN1<\/jats:italic> mutation. None of the patients fulfilled clinical criteria for the diagnosis of MFS, and all had few or none of the skeletal features typical of the condition. Two patients had a history of long\u2010term hypertension, and such a history was suspected in the third patient. These observations suggest that some individuals with <jats:italic>FBN1<\/jats:italic> mutations have significant aortic disease involvement of other systems that is typical of <jats:italic>FBN1<\/jats:italic> mutation\u2010related syndromes. Superimposed risk factors, such as hypertension, may weaken the aortic wall and eventually lead to aortic dissection. Given that the cost continues to decrease, we suggest that diagnostic DNA sequencing for <jats:italic>FBN1<\/jats:italic> mutations in patients with thoracic aortic aneurysms and dissection may be a practical clinical step in evaluating such patients and at\u2010risk family members. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32856","type":"journal-article","created":{"date-parts":[[2010,1,15]],"date-time":"2010-01-15T22:30:34Z","timestamp":1263594634000},"page":"413-416","source":"Crossref","is-referenced-by-count":35,"title":["<i>FBN1<\/i> mutations in patients with descending thoracic aortic dissections"],"prefix":"10.1002","volume":"152A","author":[{"given":"Ariel","family":"Brautbar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott A.","family":"LeMaire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis M.","family":"Franco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph S.","family":"Coselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M.","family":"Milewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Belmont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.86.12.1359"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.056382"},{"key":"e_1_2_5_6_1","first-page":"1287","article-title":"A Gly1127Ser mutation in an EGF\u2010like domain of the fibrillin\u20101 gene is a risk factor for ascending aortic aneurysm and dissection","volume":"56","author":"Francke U","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1001\/jama.1989.03430040095032","article-title":"Association of mitral valve prolapse and systemic abnormalities of connective tissue: A phenotypic continuum","volume":"262","author":"Glesby MJ","year":"1989","journal-title":"JAMA"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.6"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-64"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.94.11.2708"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.537340"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.11.001"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1721"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32856","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32856","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T22:56:07Z","timestamp":1698792967000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32856"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,15]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["10.1002\/ajmg.a.32856"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32856","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,15]]}}}