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
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Am J Med Genet A. 2007 Apr 1;143A(7):694-8. doi: 10.1002/ajmg.a.31639.
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.
在15名疑似先天性挛缩性蜘蛛指（CCA）的先证者中，通过直接测序分析了FBN2、FBN1、TGFBR1和TGFBR2。在4名先证者（27%，4/15）中总共发现了4种新的FBN2突变，但其余11名先证者的这些基因均未显示任何异常。该研究表明，FBN2突变是CCA的主要异常，而TGFBR和FBN1缺陷可能与该疾病无关。在本研究中，FBN2突变仅在第30、31和35内含子中被发现。因此，正如之前所建议的，在CCA中应优先分析FBN2外显子22至36（中间部分）的突变热点。
