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论文《Mutation c.359_363delGTATTinsATAC in the COL4A5 Causes alport syndrome in a Chinese family》

作者:邢玥时间:2013-05-14点击数:编辑:雷志阳

《Mutation c.359_363delGTATTinsATAC in the COL4A5 Causes alport syndrome in a Chinese family》是邢玥发表的一篇学术论文。他发表在核心期刊《Gene》,期刊号 Gene 512 (2013) 482–485; 10/18/2012。

论文摘要

The X-linked form of Alport syndrome is associated with mutations in the COL4A5 gene, which is located at Xq22.3 and encodes the α5 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 identi?ed 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 ?rst time revealed that the frameshift mutation in the type IV collagen chain α5 causes only renal disease, without extrarenal lesion. Our study broadens genotypic and phenotypic spectrum of COL4A5 mutations associated with Alport syndrome.

论文原文:《Mutation c.359_363delGTATTinsATAC in the COL4A5 Causes alport syndrome in a Chinese family》

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