Spectrum of mutations in Gitelman syndrome.

doi:10.1681/ASN.2010090907

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Article

Spectrum of mutations in Gitelman syndrome.

Journal of the American Society of Nephrology : JASN - 1 Apr 2011

Vargas-Poussou Rosa, Dahan Karin, Kahila Diana, Venisse Annabelle, Riveira-Munoz Eva, Debaix Huguette, Grisart Bernard, Bridoux Franck, Unwin Robert, Moulin Bruno, Haymann Jean-Philippe, Vantyghem Marie-Christine, Rigothier Claire, Dussol Bertrand, Godin Michel, Nivet Hubert, Dubourg Laurence, Tack Ivan, Gimenez-Roqueplo Anne-Paule, Houillier Pascal, Blanchard Anne, Devuyst Olivier, Jeunemaitre Xavier

Abstract excerpt

Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). Because 18 to 40% of suspected GS patients carry only one SLC12A3 mutant allele, large genomic rearrangements may account for unidentified mutations. Here, we directly sequenced genomic DNA from a large cohort of 448 unrelated...

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PMID: 21415153
DOI: 10.1681/ASN.2010090907
PMCID: PMC3065225

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