ArticleIranian journal of pediatrics2013
A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene.
Article in Iranian journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- A novel mutation ofKorean journal of pediatrics · 2016Article
- [Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria.Journal of pathology and translational medicine · 2016Article
- Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations.World journal of methodology · 2015Article
- Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene.SpringerPlus · 2014Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundBartter'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.
conclusionA 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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23550235PMC3574998W308485781What OpenQuestion holds
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