2001
DOI: 10.1038/ng752
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Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Abstract: Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification of three genes that code for renal transporters and channels as responsible for aBS has resulted in new insights into renal salt handling, diuretic action and blood-pressure regulation. 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 1p. We repor… Show more

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Cited by 479 publications
(309 citation statements)
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“…Finally, mutations in the CLCNKB gene, which codes for the basolateral renal chloride channel CLC-kb, are responsible for most of the cases of the classical variant, which is characterized by a milder phenotype beginning in infancy or childhood, hypomagnesemia in 40% of cases, and normo-or hypercalciuria (25,26). Recently, a new gene (BSND) responsible for the antenatal variant of Bartter syndrome with sensorineural deafness has been identified (27). This new gene encodes a new protein, barttin, which acts as an essential ␤-subunit for basolateral ClC-ka and ClC-kb channels (28).…”
Section: Discussionmentioning
confidence: 99%
“…Finally, mutations in the CLCNKB gene, which codes for the basolateral renal chloride channel CLC-kb, are responsible for most of the cases of the classical variant, which is characterized by a milder phenotype beginning in infancy or childhood, hypomagnesemia in 40% of cases, and normo-or hypercalciuria (25,26). Recently, a new gene (BSND) responsible for the antenatal variant of Bartter syndrome with sensorineural deafness has been identified (27). This new gene encodes a new protein, barttin, which acts as an essential ␤-subunit for basolateral ClC-ka and ClC-kb channels (28).…”
Section: Discussionmentioning
confidence: 99%
“…Bartter's syndrome features massive renal salt wasting and hypotension, often resulting in neonatal death. It is caused by recessive loss of function mutations in any of 4 genes required for normal renal NaCl reabsorption [12][13][14][15] . These include the Na-K-2Cl cotransporter SLC12A1 and the inward rectifier K + channel KCNJ1.…”
Section: Nih-pa Author Manuscriptmentioning
confidence: 99%
“…Inactivating mutations in Barttin give rise to a fourth type of Bartter's syndrome, again with familial hypotension, but complicated by sensorineural deafness attributable to the role of chloride channels in epithelia of the inner ear ( Fig. 12; Birkenhager et al 2001). …”
Section: Monogenic Hypotensionmentioning
confidence: 99%