X-linked Charcot-Marie-Tooth disease and connexin32
X-linked Charcot-Marie-Tooth disease and connexin32
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DOI：
10.1006/cbir.1998.0387
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发表时间：
1998-01-01
影响因子：
3.9
通讯作者：
Ionasescu, VV
中科院分区：
文献类型：
--
作者：
Ionasescu, VV
我们研究了29个X连锁显性CMT（CMTX1）神经病家系。25个家系显示连接蛋白32（Cx32）基因编码区突变。这些突变包括5个无义突变、17个错义突变、2个中等大小的缺失和1个插入。大多数错义突变表现为轻微的临床表型和运动神经传导速度减慢。所有五个无义突变，较大的缺失和插入显示严重的临床表型。4个CMTX1家系的临床表型较轻，Cx32基因编码区无点突变。鉴定了非编码区的两个突变。第一个突变位于神经特异性Cx32启动子，第二个突变位于mRNA的5'非翻译区。(C)北京：科学出版社.
We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size deletions and one insertion. Most missense mutations showed a mild clinical phenotype and slowing of motor nerve conduction velocities. All five nonsense mutations, the larger deletion and the insertion showed severe clinical phenotype. Four CMTX1 families with mild clinical phenotype showed no point mutations of the Cx32 gene coding region. Two mutations of the non-coding region were identified. The first mutation was located in the nerve specific Cx32 promoter, the second mutation was located in the 5' untranslated region of the mRNA. (C) 1998 Academic Press.