Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells. |
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Authors: | Jose A Riancho Gema Saro Carolina Sa?udo Maria J Izquierdo Maria T Zarrabeitia |
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Affiliation: | Department Internal Medicine, Hospital U.M. Valdecilla, 39008 Santander, Spain. rianchoj@unican.es |
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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. |
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Keywords: | gene expression Gitelman syndrome hypokalaemia |
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