Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.

ABSTRACT:

Introduction

Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS.

Methods

Clinical data were retrieved from the referral centers. The exon regions and flanking intronic sequences

SUBMITTER: Garcia Castano A 

PROVIDER: S-EPMC5348002 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature