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

M Konrad, A Schaller, D Seelow, AV Pandey… - The American Journal of …, 2006 - cell.com
M Konrad, A Schaller, D Seelow, AV Pandey, S Waldegger, A Lesslauer, H Vitzthum…
The American Journal of Human Genetics, 2006cell.com
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 …
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.
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