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Genes (10)
Species: human : 10 | |
Human | BSND | 7809 | Bartter syndrome, infantile, with sensorineural deafness (Barttin) | Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype A missense, point mutation on gene BSND exon 1, affects the function of the CLC-K/barttin chloride channel and caused Bartter syndrome with sensorineural deafness in two families from Spain The mislocalization of CLC-K2 was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins See also antenatal Bartter syndrome type 1 ({601678}) and Bartter syndrome type 2 ({241200}) Bartter syndrome type IV can be caused by various derangements in the function of barttin, likely contributing to the diversity of observed phenotypes Barttin mutations is associated with antenatal Bartter syndrome with sensorineural deafness | Human | SLC12A3 | 6559 | solute carrier family 12 (sodium/chloride transporter), member 3 | Onset in childhood (later than in antenatal Bartter syndrome {241200}) | Human | SLC12A1 | 6557 | solute carrier family 12 (sodium/potassium/chloride transporter), member 1 | Genetic heterogeneity (see antenatal Bartter syndrome type 2, {241200}) Late-onset manifestation of Bartter syndrome resulted from residual function of the mutated renal SLC12A1 Four novel SLC12A1 mutations were found in two Bartter syndrome type 1 patients | Human | SCNN1G | 6340 | sodium channel, non-voltage-gated 1, gamma subunit | | Human | SCNN1B | 6338 | sodium channel, non-voltage-gated 1, beta subunit | | Human | RGS2 | 5997 | regulator of G-protein signaling 2, 24kDa | Silencing RGS-2 in Bartters syndrome/Gitelman's syndrome patients increased Ang II-induced Cai2+ release and signaling in silenced cells compared with not silenced cells | Human | KCNJ1 | 3758 | potassium inwardly-rectifying channel, subfamily J, member 1 | A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism Genetic heterogeneity (see antenatal Bartter syndrome type 1, {601678}) In a heterozgous Bartter syndrome patient, AA exchanges Arg338Stop & Met357Thr in ROMK exon 5 alter the C-terminus of the ROMK protein & can affect channel function | Human | CYP17A1 | 1586 | cytochrome P450, family 17, subfamily A, polypeptide 1 | | Human | CLCNKB | 1188 | chloride channel, voltage-sensitive Kb | DNA mutational analysis of CLCNKB in Bartter syndrome type 3 Results identify large heterozygous deletion mutations in the CLCNKB gene in patients with type III Bartter syndrome presence of Gitelman and Bartter syndrome and CBS phenotypes, in a kindred with the CLCNKB R438H mutation See also antenatal Bartter syndrome type 1 ({601678}) and Bartter syndrome type 2 ({241200}) Identification of a novel mutation of the CLCNKB gene, DeltaL130 associated with Bartter syndrome | Human | CLCNKA | 1187 | chloride channel, voltage-sensitive Ka | See also antenatal Bartter syndrome type 1 ({601678}) and Bartter syndrome type 2 ({241200}) |
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