FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly
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DOI：
10.1002/ajmg.a.31639
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发表时间：
2007-04-01
影响因子：
2
通讯作者：
Matsumoto, Naomichi
中科院分区：
文献类型：
--
作者：
Nishimura, Akira;Sakai, Haruya;Matsumoto, Naomichi
对15例疑似先天性挛缩性蛛关节畸形（CCA）的先证进行FBN2、FBN1、TGFBR1和TGFBR2基因的直接测序分析。在4个先证者中共发现4个新的FBN2突变（27%,4/15），但其余11个基因均未显示任何异常。本研究表明，FBN2突变是CCA的主要异常，TGFBR和FBN1缺陷可能不是导致CCA的原因。在本研究中，FBN2突变仅在内含子30、31和65处发现。因此，如前所述，CCA应优先分析FBN2外显子22 ~ 36（中间部分）的突变热点。(c) Wiley-Liss, Inc
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 aabnormality in CCA, and TGFBR and FBN1 defects may not be responsible for the disorder. FBN2 mutations were only found at introns 30, 31, and 65 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. (c) Wiley-Liss, Inc.