Research process in molecular genetics of Gitelman syndrome

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