title: A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Internal Medicine, The Children's Hospital of Zhejiang University, School of Medicine, China.
authors.forename: Wang
authors.initials: W
authors.lastname: Xiumin
authors.forename: Shen
authors.initials: S
authors.lastname: Zheng
authors.forename: Xu
authors.initials: X
authors.lastname: Meichun
authors.forename: Fu
authors.initials: F
authors.lastname: Junfen
authors.forename: Liang
authors.initials: L
authors.lastname: Li
keywords: Bartter Syndrome; Chloride Channel; Hypokalemia; Metabolic Alkalosis; Mutation
references.citation: Hypertension. 2000 May;35(5):1078-84
references.pmid: 10818068
references.citation: Science. 2007 Jan 26;315(5811):525-8
references.pmid: 17185560
references.citation: Physiol Rev. 2002 Apr;82(2):503-68
references.pmid: 11917096
references.citation: J Pediatr. 2001 Sep;139(3):398-406
references.pmid: 11562620
references.citation: Nat Genet. 1997 Oct;17(2):171-8
references.pmid: 9326936
references.citation: Nat Clin Pract Nephrol. 2008 Oct;4(10):560-7
references.pmid: 18695706
references.citation: Am J Kidney Dis. 2007 Jan;49(1):91-8
references.pmid: 17185149
references.citation: Nephrol Dial Transplant. 2012 Apr;27(4):1516-21
references.pmid: 21865213
references.citation: Lancet. 2002 Aug 31;360(9334):692-4
references.pmid: 12241879
references.citation: Nephron Physiol. 2004;96(3):p65-78
references.pmid: 15056980
references.citation: Clin Genet. 2010 Feb;77(2):155-62
references.pmid: 19807735
references.citation: Eur J Pediatr. 2009 Sep;168(9):1129-33
references.pmid: 19050915
references.citation: Am J Med. 2002 Feb 15;112(3):183-90
references.pmid: 11893344
references.citation: Hum Hered. 2008;65(1):33-46
references.pmid: 17652939
references.citation: Pediatr Res. 2007 Sep;62(3):364-9
references.pmid: 17622951
references.citation: Evolution. 1984 Nov;38(6):1358-1370
references.pmid: 28563791
references.citation: Kidney Int. 2007 Jul;72(1):45-52
references.pmid: 17396111
references.citation: Nat Rev Genet. 2011 Jan;12(1):32-42
references.pmid: 21102527
references.citation: Pediatr Nephrol. 2005 Jul;20(7):891-6
references.pmid: 15875219