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Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes
Author(s) -
Sakai Haruya,
Visser Remco,
Ikegawa Shiro,
Ito Etsuro,
Numabe Hironao,
Watanabe Yoriko,
Mikami Haruo,
Kondoh Tatsuro,
Kitoh Hiroshi,
Sugiyama Ryusuke,
Okamoto Nobuhiko,
Ogata Tsutomu,
Fodde Riccardo,
Mizuno Seiji,
Takamura Kyoko,
Egashira Masayuki,
Sasaki Nozomu,
Watanabe Sachiro,
Nishimaki Shigeru,
Takada Fumio,
Nagai Toshiro,
Okada Yasushi,
Aoka Yoshikazu,
Yasuda Kazushi,
Iwasa Mitsuji,
Kogaki Shigetoyo,
Harada Naoki,
Mizuguchi Takeshi,
Matsumoto Naomichi
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31353
Subject(s) - marfan syndrome , phenotype , mutation , gene , fibrillin , genetics , abnormality , medicine , cohort , bioinformatics , biology , psychiatry
In order to evaluate the contribution of FBN1, FBN2, TGFBR1 , and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 FBN1 mutations (22 novel) in 27 patients (55%, 27/49), 1 novel TGFBR1 mutation in 1 (2%, 1/49), and 2 recurrent TGFBR2 mutations in 2 (4%, 2/49) were identified. No FBN2 mutation was found. Three patients with either TGFBR1 or TGFBR2 abnormality did not fulfill the Ghent criteria, but expressed some overlapping features of MFS and Loeys–Dietz syndrome (LDS). In the remaining 19 patients, either of the genes did not show any abnormalities. This study indicated that FBN1 mutations were predominant in MFS but TGFBRs defects may account for approximately 5–10% of patients with the syndrome. © 2006 Wiley‐Liss, Inc.