title: Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells.
abstract: Gitelman syndrome is caused by mutations of the SLC12A3 gene, which encodes the thiazide-sensitive NaCl transporter NCCT. Although several mutations causing Gitelman syndrome have been described, their molecular consequences have been rarely studied. We report a patient with Gitelman syndrome due to a mutation in the GT donor splicing site of intron 9. The analysis of RNA from peripheral blood cells showed a complete deletion of exon 9. This case report confirms the feasibility of using readily accessible blood cells to study the expression of the SLC12A3 gene, a procedure that may facilitate further studies of the functional genomics of Gitelman syndrome.
authors.affiliation: Department Internal Medicine, Hospital U.M. Valdecilla, 39008 Santander, Spain. rianchoj@unican.es
authors.forename: Jose A
authors.initials: JA
authors.lastname: Riancho
authors.forename: Gema
authors.initials: G
authors.lastname: Saro
authors.forename: Carolina
authors.initials: C
authors.lastname: Sañudo
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Izquierdo
authors.forename: Maria T
authors.initials: MT
authors.lastname: Zarrabeitia
mesh_terms: D000328:Adult; D000471:Alkalosis / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D001483:Base Sequence; D002478:Cells, Cultured; D004912:Erythrocytes; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D007008:Hypokalemia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008274:Magnesium / Q000097:blood*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011379:Prognosis; D012313:RNA / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D049992:Sodium Chloride Symporters / Q000235:genetics*; D013577:Syndrome; D049971:Thiazides / Q000627:therapeutic use
chemical_list: D049992:Sodium Chloride Symporters; D049971:Thiazides; D012313:RNA; D008274:Magnesium