American journal of medical genetics. Part A · 2007
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Nishimura Akira, Sakai Haruya, Ikegawa Shiro, Kitoh Hiroshi, Haga Nobuyuki, Ishikiriyama Satoshi, Nagai Toshiro, Takada Fumio, Ohata Takako, Tanaka Fumihiko, Kamasaki Hotaka, Saitsu Hirotomo, Mizuguchi Takeshi, Matsumoto Naomichi
Аннотация
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.
Предметные рубрики MeSH
AdolescentChildChild, PreschoolFemaleFibrillin-1Fibrillin-2FibrillinsHumansInfantInfant, NewbornMaleMarfan SyndromeMicrofilament ProteinsProtein Serine-Threonine KinasesReceptor, Transforming Growth Factor-beta Type IReceptor, Transforming Growth Factor-beta Type IIReceptors, Transforming Growth Factor betaAdipokines