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Using DHPLC and sequencing, we studied the mutation spectrum in 65 probands with Marfan syndrome and related phenotypes. A total of 24 mutations in <jats:italic>FBN1<\/jats:italic> were identified, of which 19 (nine missense, six frameshift, two nonsense and two affecting splice junctions) were novel. In the remaining 41 probands, six were identified to have novel <jats:italic>TGFBR2<\/jats:italic> mutations (one frameshift and five missense mutations). All novel mutations found in this study were confirmed to be absent in 50 unrelated normal individuals of the same ethnic background. In probands who fulfilled the Ghent criteria (n\u2009=\u200916), mutations in <jats:italic>FBN1<\/jats:italic> were found in 81% of cases. None of those with <jats:italic>TGFBR2<\/jats:italic> mutations fulfilled the Ghent criteria. Novel missense mutations of unknown significance were classified according to the latest ACMG guidelines and their likelihood to be causative was evaluated. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32918","type":"journal-article","created":{"date-parts":[[2009,6,16]],"date-time":"2009-06-16T22:38:13Z","timestamp":1245191893000},"page":"1452-1459","source":"Crossref","is-referenced-by-count":22,"title":["Identification of novel <i>FBN1<\/i> and <i>TGFBR2<\/i> mutations in 65 probands with Marfan syndrome or Marfan\u2010like phenotypes"],"prefix":"10.1002","volume":"149A","author":[{"given":"Brian Hon\u2010Yin","family":"Chung","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen Tak\u2010Sum","family":"Lam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tony Ming\u2010For","family":"Tong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanna Yuk\u2010Han","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kin\u2010Shing","family":"Lun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel Hon\u2010Chuen","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanna Fung\u2010Shan","family":"Fok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"June Siu\u2010Fong","family":"Or","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David Keith","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanling","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu\u2010Lung","family":"Lau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,6,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9377"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.1.235"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9207"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0706585"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1201\/9780203911327.ch20"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.1.229"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10249"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.86.12.1359"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9505"},{"key":"e_1_2_5_11_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_12_1","unstructured":"DietzHC.2005.Marfan syndrome. 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