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Retinitis pigmentosa (RP) is a heterogeneous set of hereditary eye diseases, characterized by selective death of photoreceptor cells in the retina, resulting in progressive visual impairment. Approximately 20–40% of RP cases are autosomal dominant RP (ADRP). In this study, a Chinese ADRP family previously localized to the region between D1S2819 and D1S2635 was sequenced via whole-exome sequencing and a variant c.1345C > G (p.R449G) was identified in  PRPF3 . The Sanger sequencing was performed in probands of additional 95 Chinese ADRP families to investigate the contribution of  PRPF3  to ADRP in Chinese population and another variant c.1532A > C (p.H511P) was detected in one family. These two variants, co-segregate with RP in two families respectively and both variants are predicted to be pathological. This is the first report about the spectrum of  PRPF3  mutations in Chinese population, leading to the identification of two novel  PRPF3  mutations. Only three clustered mutations in  PRPF3  have been identified so far in several populations and all are in exon 11. Our study expands the spectrum of  PRPF3  mutations in RP. We also demonstrate that  PRPF3  mutations are responsible for 2.08% of ADRP families in this cohort indicating that  PRPF3  mutations might be relatively rare in Chinese ADRP patients.

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa