Mutations of the BSND gene are responsible for autosomal recessive infantile Bartter syndrome with deafness.
Although exact data are not available, mutation in this gene are thought to occur 1 in 50,000-100,000 newborn.
Birkenhäger R et al. (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Estévez R et al. (2001) Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
Scholl U et al. (2006) Barttin modulates trafficking and function of ClC-K channels.
Update: Sept. 26, 2018