{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:10:31Z","timestamp":1761718231303},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,4,19]],"date-time":"2013-04-19T00:00:00Z","timestamp":1366329600000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:p>Several genes involved in the familial appearance of thoracic aortic aneurysms and dissections (<jats:styled-content style=\"fixed-case\">FTAAD<\/jats:styled-content>) have been characterized recently, one of which is <jats:italic><jats:styled-content style=\"fixed-case\">SMAD3<\/jats:styled-content><\/jats:italic>. Mutations of <jats:italic><jats:styled-content style=\"fixed-case\">SMAD3<\/jats:styled-content><\/jats:italic> cause a new syndromic form of aortic aneurysms and dissections associated with skeletal abnormalities. We discovered a small interstitial deletion of chromosome 15, leading to disruption of <jats:italic><jats:styled-content style=\"fixed-case\">SMAD3<\/jats:styled-content><\/jats:italic>, in a boy with mild mental retardation, behavioral problems and revealed features of the aneurysms\u2010osteoarthritis syndrome (<jats:styled-content style=\"fixed-case\">AOS<\/jats:styled-content>). Several family members carried the same deletion and showed features including aortic aneurysms and a dissection. This finding demonstrates that haploinsufficiency of <jats:italic><jats:styled-content style=\"fixed-case\">SMAD3<\/jats:styled-content><\/jats:italic> leads to development of both thoracic aortic aneurysms and dissections, and the skeletal abnormalities that form part of the aneurysms\u2010osteoarthritis syndrome. Interestingly, the identification of this familial deletion is an example of an unanticipated result of a genomic microarray and led to the discovery of important but unrelated serious aortic disease in the proband and family members.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01931.x","type":"journal-article","created":{"date-parts":[[2012,7,14]],"date-time":"2012-07-14T02:56:41Z","timestamp":1342234601000},"page":"337-344","source":"Crossref","is-referenced-by-count":21,"title":["An unanticipated copy number variant of\u00a0chromosome 15 disrupting <i><scp>SMAD3<\/scp><\/i> reveals a three\u2010generation family at serious risk for aortic dissection"],"prefix":"10.1111","volume":"83","author":[{"given":"Y","family":"Hilhorst\u2010Hofstee","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden the 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