Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
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.

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2.

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

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3.

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

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Update: Sept. 26, 2018