Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Barttin

Mutations of the BSND gene are responsible for autosomal recessive infantile Bartter syndrome with deafness.

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

Related Diseases:

Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB

References:

1.

Birkenhäger R et al. (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

external link
2.

Estévez R et al. (2001) Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.

external link
3.

Scholl U et al. (2006) Barttin modulates trafficking and function of ClC-K channels.

external link
4.

Orphanet article

Orphanet ID 119089 external link
5.

NCBI article

NCBI 7809 external link
6.

OMIM.ORG article

Omim 606412 external link
7.

Wikipedia article

Wikipedia EN (BSND) external link
Update: Aug. 14, 2020
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