Abstract
Alport syndrome (AS) is a hereditary disorder of progressive nephritis. Most cases are X-linked, but autosomal forms have been reported. The X-linked form is associated with mutations in the COL4A5 gene that encodes the α5 chain of type IV collagen. More than 200 mutations have been reported in X-linked AS. We report a novel 1616 G>A mutation resulting in glycine substitution to arginine at position 472 in a Turkish family with a severely affected man and several variably affected women. This is the first Turkish family in whom the molecular basis of the disease has been reported.
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Received: 16 December 1998 / Revised: 30 June 1999 / Accepted: 7 July 1999
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Topaloglu, R., Plant, K. & Flinter, F. A novel G472R mutation in a Turkish family with X-linked Alport syndrome. Pediatr Nephrol 14, 480–481 (2000). https://doi.org/10.1007/s004670050797
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DOI: https://doi.org/10.1007/s004670050797