title: DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.
abstract: Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap. Patients with clinical symptoms of antenatal form of Bartter syndrome were screened for mutations in two different genes: KCNJ1 and SLC12A1. The aim was to establish genetic mutation screening of Bartter/Gitelman syndrome and to confirm the proposed diagnosis. We have identified seven different causative mutations in the SLC12A3 gene, four in the CLCNKB gene, two in the SLC12A1 gene, and none in the KCNJ1 gene. Nine of these mutations are novel. In one case, genetic analysis led to re-evaluation of diagnosis between the Gitelman and classic form of Bartter syndrome.
authors.affiliation: Institute of Biology and Medical Genetics, Charles University in Prague and General University Hospital in Prague, Czech Republic. marketk@seznam.cz
authors.forename: M
authors.initials: M
authors.lastname: Urbanová
authors.forename: J
authors.initials: J
authors.lastname: Reiterová
authors.forename: J
authors.initials: J
authors.lastname: Stěkrová
authors.forename: P
authors.initials: P
authors.lastname: Lněnička
authors.forename: R
authors.initials: R
authors.lastname: Ryšavá
mesh_terms: D001477:Bartter Syndrome / Q000235:genetics*; D018118:Chloride Channels / Q000235:genetics; D053579:Gitelman Syndrome / Q000235:genetics*; D006801:Humans; D007668:Kidney; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D011955:Receptors, Drug / Q000235:genetics; D028021:Sodium-Potassium-Chloride Symporters / Q000235:genetics; D064466:Solute Carrier Family 12, Member 1; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics
chemical_list: C412733:CLCNKB protein, human; D018118:Chloride Channels; C086989:KCNJ1 protein, human; D026901:Membrane Transport Proteins; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; C578714:SLC12A1 protein, human; C578874:SLC12A3 protein, human; D028021:Sodium-Potassium-Chloride Symporters; D064466:Solute Carrier Family 12, Member 1; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters