A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene

Xiumin Wang; Zheng Shen; Meichun Xu; Junfen Fu; Li Liang

IJ Pediatrics

The Scientific Journal of Growth & Development Research Center

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A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene

Author(s):

Xiumin Wang¹,

Zheng Shen²,

Meichun Xu^3,*,

Junfen Fu⁴,

Li Liang⁵

IJ Pediatrics:Vol. 23, issue 1; 89-94

Published online:Dec 13, 2012

Article type:Case Report

Received:Jun 17, 2011

Accepted:Apr 01, 2012

How to Cite:Xiumin WangZheng ShenMeichun XuJunfen FuLi LiangA Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene.Iran J Pediatr.23(1):89-94.

Abstract

Background: Bartter’s syndrome is a heterogeneous disorder characterized by deficient renal reabsorption of sodium and chloride, and hypokalemic metabolic alkalosis with hyper-reninemia and hyperaldosteronemia. Bartter syndrome type III (BS type III), due to mutations in the CLCNKB gene, is highly variable. The aim of our study was to describe the clinical presentation in a Chinese girl with BS type III and to explore mutations or SNPs of CLCNKB gene in her family.
Case Presentation: The clinic data of the patient was collected. Mutations or SNPs were investigated by sequencing of the exon of CLCNKB gene. The clinic analysis confirmed the diagnosis of BS type III. The coexistence of 13 reported SNPs and 11 novel SNPs of CLCNKB gene were found in the patient and her parent. a novel heterozygous C to G transition at nucleotide 2471 in exon 20 of CLCNKB gene harbored uniquely by the patient were revealed.
Conclusion: A novel heterozygous C to G mutation at nucleotide 2471 of CLCNKB gene and some new SNPs were identified in a Chinese girl with BS type III having persistent hypokalemia. The novel mutation and SNPs make the genetic background of the patient more complicated.

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