title: FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
abstract: FBN2, FBN1, TGFBR1, and TGFBR2 were analyzed by direct sequencing in 15 probands with suspected congenital contractural arachnodactyly (CCA). A total of four novel FBN2 mutations were found in four probands (27%, 4/15), but remaining the 11 did not show any abnormality in either of the genes. This study indicated that FBN2 mutations were major abnormality in CCA, and TGFBR and FBN1 defects may not be responsible for the disorder. FBN2 mutations were only found at introns 30, 31, and 35 in this study. Thus analysis of a mutational hotspot from exons 22 to 36 (a middle part) of FBN2 should be prioritized in CCA as previously suggested.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Nishimura
authors.forename: Haruya
authors.initials: H
authors.lastname: Sakai
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kitoh
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Haga
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ishikiriyama
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: Fumio
authors.initials: F
authors.lastname: Takada
authors.forename: Takako
authors.initials: T
authors.lastname: Ohata
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Tanaka
authors.forename: Hotaka
authors.initials: H
authors.lastname: Kamasaki
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mizuguchi
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; 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: 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