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NDT Advance Access originally published online on October 12, 2005
Nephrology Dialysis Transplantation 2006 21(1):217-220; doi:10.1093/ndt/gfi093
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© The Author [2005]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Case Report

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

Jose A. Riancho1, Gema Saro1, Carolina Sañudo1, Maria J. Izquierdo2 and Maria T. Zarrabeitia3

1 Departments of Internal Medicine, 2 Nephrology and 3 Legal Medicine, Hospital U.M. Valdecilla, University of Cantabria, Santander, Spain

Correspondence and offprint request to: Jose A. Riancho, Department Internal Medicine, Hospital U.M. Valdecilla, 39008 Santander, Spain. Email: rianchoj{at}unican.es

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


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