Targeted exome sequencing identifies EYS mutations in a family with retinitis pigmentosa

Abstract

Objective To determine the disease-causing mutation in a Chinese family with retinitis pigmentosa (RP) and to characterize the clinical phenotypes. Methods Genomic DNA was extracted from each blood sample. We developed a panel for targeted exome sequencing (TES) by selecting 201 inherited retinal dystrophy genes. The proband was performed with TES and comprehensive genetic analyses. Results Ophthalmic examination of the proband showed a typical RP phenotype. After TES and comprehensive genetic analyses, we identified two compound heterozygous mutations (c.6416G>A, p.C2139Y; c.8012T>A, p.L2671X) in the EYS gene, which was responsible for causing RP. Conclusion In this study, targeted exome sequencing revealed pathogenic mutations in EYS in a Chinese family with RP. Key words: Targeted exome sequencing; Retinitis pigmentosa; EYS; Gene mutations