Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome.

ABSTRACT:

Objective

Type III Bartter syndrome (BS) is caused by loss-of-function mutations in the gene encoding basolateral chloride channel ClC-Kb (CLCNKB), and is characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here, we investigated the molecular defects in four Chinese children with clinical manifestations of Bartter syndrome.

Methods

The genomic DNA of the four patients was screened for gene variations using whole-exome sequencing (WES). The candidate variants were validated by direct Sanger sequencing. Quantitative PCR (qPCR) was subsequently performed to confirm the whole CLCNK gene deletion mutation. A minigene assay and reverse transcription PCR (RT-PCR) were performed to analyze the effect of splice variants in vitro

SUBMITTER: Wang C 

PROVIDER: S-EPMC7047732 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature