Article
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Nature genetics - 1 Aug 2003
Olbrich Heike, Fliegauf Manfred, Hoefele Julia, Kispert Andreas, Otto Edgar, Volz Andreas, Wolf Matthias T, Sasmaz Gürsel, Trauer Ute, Reinhardt Richard, Sudbrak Ralf, Antignac Corinne, Gretz Norbert, Walz Gerd, Schermer Bernhard, Benzing Thomas, Hildebrandt Friedhelm, Omran Heymut
Abstract excerpt
Nephronophthisis (NPHP), a group of autosomal recessive cystic kidney disorders, is the most common genetic cause of progressive renal failure in children and young adults. NPHP may be associated with Leber congenital amaurosis, tapeto-retinal degeneration, cerebellar ataxia, cone-shaped epiphyses, congenital oculomotor apraxia and hepatic fibrosis. Loci associated with an infantile type of NPHP on 9q22-q31...
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