Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Kidney chloride channel B

Chloride channel B is located in the thick ascending loop of Henle. Functional defects in this ion channel result in classic Bartter syndrome.

Epidemiology

Although exact data are not available, mutation in this gene are thought to occur 1 in 50,000-100,000 newborn.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Classic Bartter syndrome
CLCNKB
Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB

References:

1.

None (2001) Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes.

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2.

Bettinelli A et al. (2005) Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.

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3.

Tajima T et al. (2006) Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.

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4.

Orphanet article

Orphanet ID 119467 [^]
5.

NCBI article

NCBI 1188 [^]
6.

OMIM.ORG article

Omim 602023 [^]
7.

Wikipedia article

Wikipedia EN (CLCNKB) [^]
Update: April 29, 2019