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A total of 27 <jats:italic>FBN1<\/jats:italic> mutations (22 novel) in 27 patients (55%, 27\/49), 1 novel <jats:italic>TGFBR1<\/jats:italic> mutation in 1 (2%, 1\/49), and 2 recurrent <jats:italic>TGFBR2<\/jats:italic> mutations in 2 (4%, 2\/49) were identified. No <jats:italic>FBN2<\/jats:italic> mutation was found. Three patients with either <jats:italic>TGFBR1<\/jats:italic> or <jats:italic>TGFBR2<\/jats:italic> abnormality did not fulfill the Ghent criteria, but expressed some overlapping features of MFS and Loeys\u2013Dietz syndrome (LDS). In the remaining 19 patients, either of the genes did not show any abnormalities. This study indicated that <jats:italic>FBN1<\/jats:italic> mutations were predominant in MFS but <jats:italic>TGFBRs<\/jats:italic> defects may account for approximately 5\u201310% of patients with the syndrome. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31353","type":"journal-article","created":{"date-parts":[[2006,7,12]],"date-time":"2006-07-12T00:46:40Z","timestamp":1152665200000},"page":"1719-1725","source":"Crossref","is-referenced-by-count":56,"title":["Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan\u2010related 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