Mutations in the Pre-mRNA Splicing Gene, PRPF31, in Japanese Families With Autosomal Dominant Retinitis Pigmentosa

The 1142delG and 1155-1159delGGACG/insAGGGATT mutations in the PRPF31 gene cause RP. The prevalence of mutations in the PRPF31 gene in Japanese patients with ADRP is approximately 3%. However, it is important to note that there are asymptomatic obligate carriers.