title: Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
abstract: 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.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Haruya
authors.initials: H
authors.lastname: Sakai
authors.forename: Remco
authors.initials: R
authors.lastname: Visser
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
authors.forename: Etsuro
authors.initials: E
authors.lastname: Ito
authors.forename: Hironao
authors.initials: H
authors.lastname: Numabe
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Haruo
authors.initials: H
authors.lastname: Mikami
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Kondoh
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kitoh
authors.forename: Ryusuke
authors.initials: R
authors.lastname: Sugiyama
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
authors.forename: Riccardo
authors.initials: R
authors.lastname: Fodde
authors.forename: Seiji
authors.initials: S
authors.lastname: Mizuno
authors.forename: Kyoko
authors.initials: K
authors.lastname: Takamura
authors.forename: Masayuki
authors.initials: M
authors.lastname: Egashira
authors.forename: Nozomu
authors.initials: N
authors.lastname: Sasaki
authors.forename: Sachiro
authors.initials: S
authors.lastname: Watanabe
authors.forename: Shigeru
authors.initials: S
authors.lastname: Nishimaki
authors.forename: Fumio
authors.initials: F
authors.lastname: Takada
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Okada
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Aoka
authors.forename: Kazushi
authors.initials: K
authors.lastname: Yasuda
authors.forename: Mitsuji
authors.initials: M
authors.lastname: Iwasa
authors.forename: Shigetoyo
authors.initials: S
authors.lastname: Kogaki
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mizuguchi
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D054392:Adipokines
chemical_list: D030201:Activin Receptors, Type I; D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta; C000605722:FBN1 protein, human; D054392:Adipokines; C000605723:FBN2 protein, human; C000625841:TGFBR1 protein, human