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Jialiang Yang, Zhenglin Yang, Lulin Huang; Mutation Screening of Multiple Genes in a Chinese Cohort of Sporadic Patients with Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2019;60(9):4488.
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© ARVO (1962-2015); The Authors (2016-present)
Retinitis pigmentosa (RP), a major cause of inherited blindness worldwide, is highly heterogeneous. Up to now, at least 77 RP-causative genes have been identified. Whole exome sequencing (WES) represents a significant advancement in the identification of mutations associated with Mendelian diseases like RP. In this study, we performed WES analysis in a Chinese cohort of 95 sporadic patients with RP to identify disease mutations.
Chinese cohort of 95 sporadic patients with RP were subjected to whole exome sequencing (WES). All the detected variations were confirmed by direct Sanger sequencing and potential pathogenicity was assessed by mutations’ functional predictions.
The overall presumptive mutation detected rate for this cohort was 40% (n=38 of 95 patients). Forty-eight mutations were identified in 21 RP genes, among which 44 mutations were novel. Ten patients carried autosomal dominant (AD) genes’ mutations (26.3%), 24 patients carried autosomal recessive (AR) gene’s mutations (63.2%), and three families had X-linked genes’ mutations (7.9%).
WES is an an effficient method to identify novel RP genes. The recurrent and novel mutations identified in this study expanded our potential understanding of the pathogenesis of RP.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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