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Article

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

European journal of human genetics : EJHG - 1 Mar 2012

Glaudemans Bob, Yntema Helger G, San-Cristobal Pedro, Schoots Jeroen, Pfundt Rolph, Kamsteeg Erik-J, Bindels René J, Knoers Nine V A M, Hoenderop Joost G, Hoefsloot Lies H

Abstract excerpt

Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis in conjunction with significant hypomagnesemia and hypocalciuria. The GS phenotype is caused by mutations in the solute carrier family 12, member 3 (SLC12A3) gene that encodes the thiazide-sensitive NaCl cotransporter (NCC). We analyzed DNA samples of 163 patients with a clinical suspicion of GS by direct...

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Identifiers

PMID: 22009145
DOI: 10.1038/ejhg.2011.189
PMCID: PMC3283182

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