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Article

R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome.

Frontiers of medicine - 1 Dec 2022

Li Zongyue, Wu Huixiao, Wei Shuoshuo, Liu Moke, Shi Yingzhou, Li Mengzhu, Wang Ning, Fang Li, Xiang Bo, Gao Ling, Xu Chao, Zhao Jiajun

Abstract excerpt

The dysfunction of Na+-Cl- cotransporter (NCC) caused by mutations in solute carrier family12, member 3 gene (SLC12A3) primarily causes Gitelman syndrome (GS). In identifying the pathogenicity of R158Q and G212S variants of SLC12A3, we evaluated the pathogenicity by bioinformatic, expression, and localization analysis of two variants from a patient in our cohort. The prediction of mutant protein showed that...

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PMID: 36370249
DOI: 10.1007/s11684-022-0963-9

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