Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

doi:10.1002/ajmg.a.31353

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Article

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

American journal of medical genetics. Part A - 15 Aug 2006

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

Abstract excerpt

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...

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Identifiers

PMID: 16835936
DOI: 10.1002/ajmg.a.31353

Genes

FBN1
TGFBR1
TGFBR2
FBN2

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