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.
金卡露,章峥嵘,王毅. 应用新一代目标区域捕获测序揭示视网膜色素变性患者的EYS基因突变[J]. 中华眼视光学与视觉科学杂志, 2016, 18(1): 25-28.
Jin Kalu*,Zhang Zhengrong,Wang Yi. Targeted exome sequencing identifies EYS mutations in a family with retinitis pigmentosa. Chinese Journal of Optometry Ophthalmology and Visual science, 2016, 18(1): 25-28. DOI: DOI:10.3760/cma.j.issn.1674-845X.2016.01.006
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