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Whole exome sequencing identifies mutations of multiple genes in a Chinese cohort of 95 sporadic probands with presumptive retinitis pigmentosa

Abstract Retinitis pigmentosa (RP), a major cause of inherited blindness worldwide, is highly heterogeneous. This study aimed to identify mutations in a Chinese cohort of sporadic probands with presumptive RP. Whole exome sequencing represents a considerable advancement in the identification of mutations associated with Mendelian diseases, such as RP. In this study, whole exome sequencing analysis was performed in a Chinese cohort of 95 sporadic probands who were initially diagnosed with RP, in order to identify disease mutations. All detected variations were confirmed by direct Sanger sequencing, and potential pathogenicity was assessed by predictions of the mutations’ functions. The overall mutation rate of presumptive RP genes for this cohort was 30.5% (n = 29 of 95 probands). Forty-four mutations were identified in 19 RP genes, among which 40 mutations were novel. Eleven probands carried mutations in autosomal dominant genes (38.0%), 16 probands carried mutations in autosomal recessive genes (55.2%), and 2 probands carried mutations in X-linked genes (6.9%). Twenty-eight mutations in 18 genes linked to other retinal diseases in 23 probands were also identified. Overall, mutations were detected in 52 probands (54.7%). The recurrent and novel mutations reported here will expand potential understanding of the pathogenesis of RP and other retinal diseases.