title: A novel G472R mutation in a Turkish family with X-linked Alport syndrome.
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 alpha 5 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.
authors.affiliation: Department of Pediatric Nephrology and Rheumatology, Hacettepe University, School of Medicine, Ankara, Turkey. rtopalog@genetic.gen.hun.edu.tr
authors.forename: R
authors.initials: R
authors.lastname: Topaloglu
authors.forename: K E
authors.initials: KE
authors.lastname: Plant
authors.forename: F
authors.initials: F
authors.lastname: Flinter
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics*; D014421:Turkey; D014960:X Chromosome / Q000235:genetics*