Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation

An Iranian girl with clinical symptoms of Bartter syndrome like hypokalemia, polyuria, polydipsia, hyponatremia, and hypochloremic alkalosis was referred to us in whom the CLCNKB gene was genetically evaluated using Sanger sequencing. A homozygous pathogenic variant of c.1332_1335delCTCT was detecte...

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Bibliographic Details
Published in:Clinical case reports 2022-12, Vol.10 (12), p.e6698-n/a
Main Authors: Nojehdeh, Somayeh Takrim, Mojbafan, Marzieh, Hooman, Nakysa, Hoseini, Rozita, Otukesh, Hasan
Format: Article
Language:English
Subjects:
Alkalosis
Bartter syndrome
Case Report
Case reports
CLC‐kb
Consent
Disease
Hypokalemia
In silico analysis
Metabolism
Mutation
Patients
Polyuria
Proteins
sanger sequencing
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Summary:An Iranian girl with clinical symptoms of Bartter syndrome like hypokalemia, polyuria, polydipsia, hyponatremia, and hypochloremic alkalosis was referred to us in whom the CLCNKB gene was genetically evaluated using Sanger sequencing. A homozygous pathogenic variant of c.1332_1335delCTCT was detected in this patient. In this study, a novel homozygous pathogenic variant in the CLCNKB gene was identified in an Iranian patient with clinical symptom of the Bartter syndrome.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.6698