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

Publisher DOI
PubMed ID
17033971
Abstract
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 abnormalities. CLDN19 encodes the tight-junction protein claudin-19, and we demonstrate high expression of CLDN19 in renal tubules and the retina. The identified mutations interfere severely with either cell-membrane trafficking or the assembly of the claudin-19 protein. The identification of CLDN19 mutations in patients with chronic renal failure and severe visual impairment supports the fundamental role of claudin-19 for normal renal tubular function and undisturbed organization and development of the retina.
Date Issued
2006
Publication Type
Article
Subject(s)
Language(s)
en
Author(s)
Seelow, Dominik
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
Neuhauss, Stephan C F
Nurnberg, Peter
Weber, Stefanie
Additional Credits
Journal
American journal of human genetics
Publisher
Cell Press
ISSN
0002-9297
ISBN
17033971
Access(Rights)
metadata.only
Show full item