Purpose This study was intended to identify disease causing genes in a large Chinese Hui People family with autosomal dominant retinitis pigmentosa.Methods A genome scan analysis was conducted in this family for disease gene preliminary mapping.Snapshot analysis of selected SNPs for Two-point LOD score analysis for candidate gene filter.Candidate gene PRPF31 whole exons' sequencing was executed to identify mutations.Results A novel nonsense mutation caused by insertion was found in PRPF31 gene.All the 19 RP patients in 1085 family are carrying this nonsense heterozygous mutation.The nonsense mutation is in PRPF31 gene exon9 at chr19:54629961-54629961,inserting nucleotide"A"that generates the coding protein frame shift from p.307 and early termination at p.322 in the snoRNA binding domain(NOP domain).