Novel 2336-2337delCT mutation in RP1 gene in a japanee family with autoomal dominant retiniti pigmentoa

Purpoe To determine the frequency and kind of mutation in the RP1 gene, and to characterize the clinical feature of a Japanee family with autoomal dominant retiniti pigmentoa (ADRP) with a novel 2336 to 2337delCT mutation in the RP1 gene. Deign Cae report and reult of DNA analyi. Method Mutational creening by direct equencing wa performed on 96 unrelated patient with ADRP. The clinical feature were determined by complete ophthalmologic examination. Reult A novel 2336 to 2337delCT mutation in the RP1 gene wa identified in two patient from a Japanee family with ADRP. In addition, three familie with ADRP carried a previouly reported nonpathogenic Arg1933X mutation. The ophthalmic finding with a 2336 to 2337delCT mutation were imilar to thoe of typical retiniti pigmentoa with rapid progreion after age 40 year. Concluion The mot common Arg677X mutation in the white population wa not found in the Japanee population; intead a novel mutation wa found.