Mutation spectrum of Chinese patients with Bartter syndrome.

ABSTRACT:

Objective

Bartter syndrome (BS) has been rarely reported in Chinese population except for a few case reports. This investigation was aimed to analyze the mutations of the causal genes in sixteen Chinese patients with BS, and review their followup and treatment.

Methods

Identify mutations by the next generation sequencing and the multiplex ligation-dependent probe amplification (MLPA). Clinical characteristics and biochemical findings at the first presentation as well as follow-up were reviewed.

Results

15 different CLCNKB gene mutations were identified in fourteen patients with BS, including 11 novel ones. A novel missense mutation and a novel small deletion were found from SLC12A1 gene. A novel gross deletion was found in CLCNKA gene. A recurrent missense mutation wa

SUBMITTER: Han Y 

PROVIDER: S-EPMC5731900 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature