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| Item Type: | Article |
|---|---|
| Title: | Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement |
| Creators Name: | Konrad, M. and Schaller, A. and Seelow, D. and Pandey, A.V. and Waldegger, S. and Lesslauer, A. and Vitzthum, H. and Suzuki, Y. and Luk, J.M. and Becker, C. and Schlingmann, K.P. and Schmid, M. and Rodriguez-Soriano, J. and Ariceta, G. and Cano, F. and Enriquez, R. and Jueppner, H. and Bakkaloglu, S.A. and Hediger, M.A. and Gallati, S. and Neuhauss, S.C.F. and Nuernberg, P. and Weber, S. |
| 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. |
| Keywords: | Cell Line, Chromosome Mapping, Human Chromosomes Pair 1, Eye Abnormalities, Chronic Kidney Failure, Magnesium Deficiency, Membrane Proteins, Molecular Models, Molecular Sequence Data, Mutation, Pedigree, Recombinant Proteins, Tight Junctions, Animals, Dogs, Mice |
| Source: | American Journal of Human Genetics |
| ISSN: | 0002-9297 |
| Publisher: | University of Chicago Press |
| Volume: | 79 |
| Number: | 5 |
| Page Range: | 949-957 |
| Date: | 1 November 2006 |
| Official Publication: | https://doi.org/10.1086/508617 |
| PubMed: | View item in PubMed |
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