creening for Mutation in the IMPDH1 Gene in Japanee Patient With Autoomal Dominant Retiniti Pigmentoa

Purpoe To determine the preence and frequency of mutation in the IMPDH1 gene in Japanee patient with autoomal dominant retiniti pigmentoa (ADRP), and to characterize the clinical characteritic of patient with the Ly238Arg mutation in the IMPDH1 gene. Deign Cae report and reult of DNA analyi. Method All 14 coding exon of the IMPDH1 gene were directly equenced in 96 unrelated patient with ADRP. The clinical feature were determined by viual acuity, lit-lamp biomicrocopy, and kinetic viual field tet. Reult Two novel mutation, a Leu227Pro and Ly238Arg, in the IMPDH1 gene were identified in two unrelated familie with ADRP. The clinical feature aociated with the Ly238Arg mutation were an early-onet and evere retinal degeneration. Concluion The mot commonly reported Ap226An mutation wa not found in the Japanee population, intead two novel mutation were found. Thee finding ugget that mutation of the IMPDH1 gene caue ADRP in the Japanee population.