Mutation c.359_363de1GTATTinsATAC in the COL4A5 Causes alport syndrome in a Chinese family
Mutation c.359_363de1GTATTinsATAC in the COL4A5 Causes alport syndrome in a Chinese family
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COL4A5 中的 c.359_363de1GTATTinsATAC 突变导致中国家庭的阿尔波特综合征
DOI：
10.1016/j.gene.2012.10.014
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发表时间：
2013-01-10
期刊：
影响因子：
3.5
通讯作者：
Liu, Mugen
中科院分区：
文献类型：
--
作者：
Wang, Qiufen;Liu, Fei;Liu, Mugen
Alport综合征的X连锁形式与Col4A5基因的突变有关，该基因位于Xq22.3，编码IV型胶原的α5链。在这里，我们的临床特征是一个患有Alport综合征的中国家庭，但在该家庭中没有观察到任何患者的眼睛或听力异常。通过连锁分析和DNA直接测序，在该家系中发现了一个新的Col4A5基因复杂的缺失/插入突变c.359_363delGTATTinsATAC。在所有受影响的家庭成员中都发现了这种突变，但在未受影响的家庭个人或200名对照中没有发现这种突变。该家族预测的突变蛋白是一种仅由153个残基组成的截短蛋白。我们的报告首次揭示了IV型胶原链a5的移码突变只会导致肾脏疾病，而不会引起肾外损害。我们的研究拓宽了与Alport综合征相关的Col4A5突变的基因型谱和表型谱。(C)2012爱思唯尔B.V.保留所有权利。
The X-linked form of Alport syndrome is associated with mutations in the COL4A5 gene, which is located at Xq22.3 and encodes the alpha 5 chain of type IV collagen. Here we clinically characterized a Chinese family with Alport Syndrome, but no ocular or hearing abnormalities have been observed in any patient in the family. Through Linkage analysis and direct DNA sequencing, a novel complex deletion/insertion mutation c.359_363delGTATTinsATAC in the COL4A5 gene was identified in the family. The mutation was found in all affected family members, but was not present in the unaffected family individuals or the 200 controls. The predicted mutant protein in the family is a truncated protein consisting of only 153 residues. Our report for the first time revealed that the frameshift mutation in the type IV collagen chain a5 causes only renal disease, without extrarenal lesion. Our study broadens genotypic and phenotypic spectrum of COL4A5 mutations associated with Alport syndrome. (c) 2012 Elsevier B.V. All rights reserved.