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

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; ... (2006). 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, 79(5), pp. 949-57. New York, N.Y.: Cell Press 10.1086/508617

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Biochemistry and Molecular Medicine

UniBE Contributor:

Konrad, Martin; Schaller, André; Pandey, Amit Vikram; Hediger, Matthias and Gallati, Sabina

ISSN:

0002-9297

ISBN:

17033971

Publisher:

Cell Press

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:45

Last Modified:

17 Mar 2015 21:43

Publisher DOI:

10.1086/508617

PubMed ID:

17033971

Web of Science ID:

000241667400016

URI:

https://boris.unibe.ch/id/eprint/18598 (FactScience: 799)

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