Journal Article

Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells

Jose A. Riancho, Gema Saro, Carolina Sañudo, Maria J. Izquierdo and Maria T. Zarrabeitia

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 21, issue 1, pages 217-220
Published in print January 2006 | ISSN: 0931-0509
Published online October 2005 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/gfi093
Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells

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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.

Keywords: gene expression; Gitelman syndrome; hypokalaemia

Journal Article.  2120 words.  Illustrated.

Subjects: Nephrology

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