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Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families.

Cytogenetic and genome research - 1 Jan 2020

Lv Xing, Wu Wei-Qing, Zhang Jia-Xun, Miao Liu-Fei, Yu Bai-Zeng, Chen Fang-Fang, Cui Ying-Xia, Xia Zheng-Kun, Liu Zhi-Hong, Li Xiao-Jun

Abstract excerpt

X-linked Alport syndrome (XLAS) is a common hereditary nephropathy caused by COL4A5 gene mutations. To date, many splice site mutations have been described but few have been functionally analyzed to verify the exact splicing effects that contribute to disease pathogenesis. Here, we accidentally discovered 2 COL4A5 gene splicing mutations affecting the same residue (c.2917+1G>A and c.2917+1G>C) in 2 unrelated...

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PMID: 32659759
DOI: 10.1159/000508562

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