Open AccessThree Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient
Author(s) -
Ming Zhong,
Zhenwei Zhai,
Xing Zhou,
Jingxia Sun,
Hui Chen,
Wensheng Lu
Publication year - 2021
Publication title -
international journal of general medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.722
H-Index - 36
ISSN - 1178-7074
DOI - 10.2147/ijgm.s308246
Subject(s) - exon , gitelman syndrome , missense mutation , medicine , hypokalemia , hypomagnesemia , metabolic alkalosis , genetics , mutation , gene , biology , materials science , metallurgy , magnesium
Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis. In this study, we investigated the clinical presentation and sequenced 26 exons of SLC12A3 gene in a patient with a clinical suspicion of GS.