Analysis of novel mutations of SLC12A3 gene in a pedigree with Gitelman syndrome

Objective To investigate the clinical features andgenetic etiology of a pedigree with Gitelman syndrome and review the literature.Methods Physical examination, electrolyte determination, and exome sequencing were performed on the proband. The target mutation was analyzed by Sanger sequencing and verified in family members.Results The proband and his sister were diagnosed with Gitelman syndrome, with hypokalemia, hypomagnesemia, hypocalciuria and without hypertension. Both the proband and his sister showed compound heterozygous mutations c.1850A>G and c.909delG in SLC12A3 gene. Three of the family members carried the mutation c.1850A>G, while two of them carried the mutation c.909delG.No hypokalemia was found in heterozygotes.Conclusions The novel mutations c.1850A>G and c.909delG in SLC12A3 gene cause Gitelman Syndrome in this family.