RGD Reference Report - Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells. - Rat Genome Database

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

Authors: Riancho, JA  Saro, G  Sanudo, C  Izquierdo, MJ  Zarrabeitia, MT 
Citation: Riancho JA, etal., Nephrol Dial Transplant. 2006 Jan;21(1):217-20. Epub 2005 Oct 12.
RGD ID: 1580588
Pubmed: PMID:16221718   (View Abstract at PubMed)
DOI: DOI:10.1093/ndt/gfi093   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SLC12A3HumanGitelman syndrome  IAGP DNA:snp:intron:IVS9+1G>T (human)RGD 
Slc12a3RatGitelman syndrome  ISOSLC12A3 (Homo sapiens)DNA:snp:intron:IVS9+1G>T (human)RGD 
Slc12a3MouseGitelman syndrome  ISOSLC12A3 (Homo sapiens)DNA:snp:intron:IVS9+1G>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc12a3  (solute carrier family 12 member 3)

Genes (Mus musculus)
Slc12a3  (solute carrier family 12, member 3)

Genes (Homo sapiens)
SLC12A3  (solute carrier family 12 member 3)


Additional Information