Novel gain‐of‐function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree
Novel gain‐of‐function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree
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DOI：
10.1111/nep.13963
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发表时间：
2021-08
期刊：
影响因子：
2.5
通讯作者：
Zhiying Liu;Haiyan Zhang;Shi-ping Zhao;Qian Zhang;Ruixiao Zhang;Yue Han;L. Shao;Xiangzhong Zhao
中科院分区：
文献类型：
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作者：
Zhiying Liu;Haiyan Zhang;Shi-ping Zhao;Qian Zhang;Ruixiao Zhang;Yue Han;L. Shao;Xiangzhong Zhao
局灶节段性肾小球硬化（FSGS, OMIM®#603 965）是导致终末期肾病（ESRD）的主要原因。TRPC6基因作为TRP超家族成员，其突变与FSGS密切相关。到目前为止，已经报道了20个错义突变，其中根据对TRPC6通道活性的影响，已识别出9个功能增益（GOF）突变和5个功能缺失（LOF）突变。对功能突变的系统研究将为了解TRPC6参与FSGS的病理生理机制提供有价值的依据。本研究的目的是研究一种新的TRPC6突变p.Q134P在FSGS中的致病性。
Focal segmental glomerulosclerosis (FSGS, OMIM®#603 965) is an overriding cause that leads to end‐stage renal disease (ESRD). As a member of TRP superfamily, mutations of TRPC6 gene are closely linked to FSGS. By now, 20 missense mutations have been reported, among them, nine gain‐of‐function (GOF), and five loss‐of‐function (LOF) mutations have been recognized according to the effect on TRPC6 channel activity. Systematic investigations of functional mutations will provide valuable evidences for understanding the pathophysiology of TRPC6 involved in FSGS. The aim of this study is to investigate the pathogenicity of a novel TRPC6 mutation p.Q134P in FSGS.