[PDF][PDF] Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
The American Journal of Human Genetics, 2006•cell.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 …
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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