{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:26:51Z","timestamp":1791296811705,"version":"4.1.0"},"reference-count":25,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,6]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      The diagnosis of Marfan syndrome (MFS) is usually initially based on clinical criteria according to the number of major and minor systems affected following international nosology. The number of\n                      <jats:italic>FBN1<\/jats:italic>\n                      mutation carriers, at risk of aortic complications who would not be properly diagnosed based only on clinical grounds, is of growing importance owing to the increased availability of molecular screening. The aim of the study was to identify patients who should be considered for\n                      <jats:italic>FBN1<\/jats:italic>\n                      mutation screening.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      Our international series included 1009 probands with a known\n                      <jats:italic>FBN1<\/jats:italic>\n                      mutation. Patients were classified as either fulfilling or not fulfilling \u201cclinical\u201d criteria. In patients with unfulfilled \u201cclinical\u201d criteria, we evaluated the percentage of additional patients who became positive for international criteria when the\n                      <jats:italic>FBN1<\/jats:italic>\n                      mutation was considered. The aortic risk was evaluated and compared in patients fulfilling or not fulfilling the \u201cclinical\u201d international criteria.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Diagnosis of MFS was possible on clinical grounds in 79% of the adults, whereas 90% fulfilled the international criteria when including the\n                      <jats:italic>FBN1<\/jats:italic>\n                      mutation. Corresponding figures for children were 56% and 85%, respectively. Aortic dilatation occurred later in adults with unfulfilled \u201cclinical criteria\u201d when compared to the Marfan syndrome group (44% vs 73% at 40 years, p&lt;0.001), but the lifelong risk for ascending aortic dissection or surgery was not significantly different in both groups.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Because of its implications for aortic follow-up,\n                      <jats:italic>FBN1<\/jats:italic>\n                      molecular analysis is recommended in newly suspected MFS when two systems are involved with at least one major system affected. This is of utmost importance in patients without aortic dilatation and in children.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg.2007.056382","type":"journal-article","created":{"date-parts":[[2008,2,29]],"date-time":"2008-02-29T20:55:20Z","timestamp":1204318520000},"page":"384-390","source":"Crossref","is-referenced-by-count":86,"title":["Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 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