Review Article
Research process in molecular genetics of Gitelman syndrome
Li Zongyue, Xu Chao, Gao Ling
Published 2020-04-25
Cite as Chin J Endocrinol Metab, 2020, 36(4): 348-351. DOI: 10.3760/cma.j.cn311282-20190605-00213
Abstract
Gitelman syndrome(GS) is an autosomal recessive genetic disease caused by mutations in the SLC12A3 gene located in chromosome 16q13. The incidence of GS is 1-10∶40 000. SLC12A3 encodes thiazide-sensitive sodium-chloride cotransporters(NCC) which play key roles in Na+ and Cl- reabsorption. GS is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. There are some correlations between genotypes and phenotypes. In previous studies, more than 500 mutations have been identified and some of them have been functionally analyzed. We review genetic mutations and functional studies related to GS as well as the relationship between genotypes and phenotypes, and summarize the research process in molecular genetics of GS.
Key words:
Gitelman syndrome; Na+ /Cl- cotransporter; SLC12A3 gene mutation
Contributor Information
Li Zongyue
Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong University, Shandong Clinical Medical Center of Endocrinology and Metabolism Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, Jinan 250021, China
Xu Chao
Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong University, Shandong Clinical Medical Center of Endocrinology and Metabolism Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, Jinan 250021, China
Gao Ling
Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong University, Shandong Clinical Medical Center of Endocrinology and Metabolism Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, Jinan 250021, China
