{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:38:16Z","timestamp":1791250696877,"version":"4.1.0"},"reference-count":21,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Mutations in the transforming growth factor \u03b2 receptor type I and II genes (<jats:italic>TGFBR1<\/jats:italic> and <jats:italic>TGFBR2<\/jats:italic>) cause Loeys\u2013Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate\/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation. <jats:italic>TGFBR2<\/jats:italic> mutations can also cause TAAD in the absence of features of LDS in large multigenerational families, yet only sporadic LDS cases or parent\u2013child pairs with <jats:italic>TGFBR1<\/jats:italic> mutations have been reported to date.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>The authors identified <jats:italic>TGFBR1<\/jats:italic> missense mutations in multigenerational families with TAAD by DNA sequencing. Clinical features of affected individuals were assessed and compared with clinical features of previously described <jats:italic>TGFBR2<\/jats:italic> families.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Statistical analyses of the clinical features of the <jats:italic>TGFBR1<\/jats:italic> cohort (n\u200a=\u200a30) were compared with clinical features of <jats:italic>TGFBR2<\/jats:italic> cohort (n\u200a=\u200a77). Significant differences were identified in clinical presentation and survival based on gender in <jats:italic>TGFBR1<\/jats:italic> families but not in <jats:italic>TGFBR2<\/jats:italic> families. In families with <jats:italic>TGFBR1<\/jats:italic> mutations, men died younger than women based on Kaplan\u2013Meier survival curves. In addition, men presented with TAAD and women often presented with dissections and aneurysms of arteries other than the ascending thoracic aorta. The data also suggest that individuals with <jats:italic>TGFBR2<\/jats:italic> mutations are more likely to dissect at aortic diameters &lt;5.0 cm than individuals with <jats:italic>TGFBR1<\/jats:italic> mutations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>This study is the first to demonstrate clinical differences between patients with <jats:italic>TGFBR1<\/jats:italic> and <jats:italic>TGFBR2<\/jats:italic> mutations. These differences are important for the clinical management and outcome of vascular diseases in these patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.062844","type":"journal-article","created":{"date-parts":[[2009,6,19]],"date-time":"2009-06-19T20:18:14Z","timestamp":1245442694000},"page":"607-613","source":"Crossref","is-referenced-by-count":162,"title":["Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to <i>TGFBR1<\/i> or <i>TGFBR2<\/i> mutations"],"prefix":"10.1136","volume":"46","author":[{"given":"V","family":"Tran-Fadulu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Pannu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D H","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"G 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