Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

doi:10.1086/508617

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Article

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

American journal of human genetics - 1 Nov 2006

Konrad Martin, Schaller Andre, Seelow Dominik, Pandey Amit V, Waldegger Siegfried, Lesslauer Annegret, Vitzthum Helga, Suzuki Yoshiro, Luk John M, Becker Christian, Schlingmann Karl P, Schmid Marcel, Rodriguez-Soriano Juan, Ariceta Gema, Cano Francisco, Enriquez Ricardo, Juppner Harald, Bakkaloglu Sevcan A, Hediger Matthias A, Gallati Sabina, Neuhauss Stephan C F, Nurnberg Peter, Weber Stefanie

Abstract excerpt

Claudins are major components of tight junctions and contribute to the epithelial-barrier function by restricting free diffusion of solutes through the paracellular pathway. We have mapped a new locus for recessive renal magnesium loss on chromosome 1p34.2 and have identified mutations in CLDN19, a member of the claudin multigene family, in patients affected by hypomagnesemia, renal failure, and severe ocular...

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PMID: 17033971
DOI: 10.1086/508617
PMCID: PMC1698561

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CLDN19

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