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Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

Molecular biology reports - 1 Jun 2014

Guo Yi, Yuan Jinzhong, Liang Hui, Xiao Jingjing, Xu Hongbo, Yuan Lamei, Gao Kai, Wu Bin, Tang Yongchang, Li Xiaorong, Deng Hao

Abstract excerpt

Alport syndrome (AS) is an inherited disorder and clinically characterized by glomerulonephritis and end-stage kidney disease (ESRD). The aim of this study was to identify the gene responsible for glomerulopathy in a 4-generation Chinese pedigree. Exome sequencing was conducted in four patients of the family, and then direct sequencing was performed in other members of the pedigree. A novel missense mutation...

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PMID: 24522658
DOI: 10.1007/s11033-014-3227-1

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Five novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndromeSemantic proximity Read ↗

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