Novel 2336-2337delCT mutation in RP1 gene in a japanese family with autosomal dominant retinitis pigmentosa

Abstract

PurposeTo determine the frequency and kinds of mutations in the RP1 gene, and to characterize the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) with a novel 2336 to 2337delCT mutation in the RP1 gene. DesignCase reports and results of DNA analysis. MethodsMutational screening by direct sequencing was performed on 96 unrelated patients with ADRP. The clinical features were determined by complete ophthalmologic examinations. ResultsA novel 2336 to 2337delCT mutation in the RP1 gene was identified in two patients from a Japanese family with ADRP. In addition, three families with ADRP carried a previously reported nonpathogenic Arg1933X mutation. The ophthalmic findings with a 2336 to 2337delCT mutation were similar to those of typical retinitis pigmentosa with rapid progression after age 40 years. ConclusionsThe most common Arg677X mutation in the white population was not found in the Japanese population; instead a novel mutation was found.