Mutation in the Pre-mRNA plicing Gene, PRPF31, in Japanee Familie With Autoomal Dominant Retiniti Pigmentoa

Purpoe To decribe the clinical and genetic characteritic of three Japanee familie with autoomal dominant retiniti pigmentoa (ADRP) aociated with mutation in the PRPF31 gene. Deign Cae report and reult of DNA analyi. Method Mutational creening of the PRPF31 gene wa performed on 96 unrelated patient with ADRP by direct equencing. The clinical feature were characterized by complete ophthalmologic examination. Reult Three mutation in the PRPF31 gene, deignated a 1142delG, 1155–1159delGGACG/inAGGGATT, and IV6 to 3 to -45del, were identified in three unrelated Japanee familie with ADRP. The 1142delG and 1155–1159delGGACG/inAGGGATT mutation are novel. The phenotype of affected family member wa typical of retiniti pigmentoa (RP). Additionally, we identified aymptomatic obligate carrier. Concluion The 1142delG and 1155–1159delGGACG/inAGGGATT mutation in the PRPF31 gene caue RP. The prevalence of mutation in the PRPF31 gene in Japanee patient with ADRP i approximately 3%. However, it i important to note that there are aymptomatic obligate carrier.