A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.

ABSTRACT:

Background

Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. In this study, we report a case of a GS pedigree, including analysis of GS-associated gene mutations.

Methods

We performed next-generation sequencing analysis and Sanger sequencing to explore the SLC12A3 mutations in a GS pedigree that included a 35-year-old female patient with GS and five family members within three generations. Furthermore, we summarized their clinical manifestations and analyzed laboratory parameters related to GS.

Results

The fe

SUBMITTER: Chen Y 

PROVIDER: S-EPMC5789536 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature