Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure Academic Article uri icon

abstract

  • Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies1. Identification of three genes that code for renal transporters and channels as responsible for aBS2,3,4,5,6,7 has resulted in new insights into renal salt handling, diuretic action and blood-pressure regulation8. A gene locus of a fourth variant of aBS called BSND, which in contrast to the other forms is associated with sensorineural deafness (SND) and renal failure, has been mapped to chromosome 1p9. We report here the identification by positional cloning, in a region not covered by the human genome sequencing projects, of a new gene, BSND, as the cause of BSND. We examined ten families with BSND and detected seven different mutations in BSND that probably result in loss of function. In accordance with the phenotype, BSND is expressed in the thin limb and the thick ascending limb of the loop of Henle in the kidney and in the dark cells of the inner ear. The gene encodes a hitherto unknown protein with two putative transmembrane α-helices and thus might function as a regulator for ion-transport proteins involved in aBS, or else as a new transporter or channel itself.

publication date

  • January 1, 2001