Clinical Whole-Exome Sequencing for the Diagnosis of Sporadic Retinitis Pigmentosa
作者单位：The Key Laboratory for Human Disease Gene Study Sichuan Academy of Medical Science and Sichuan Provincial People’s hospital School of Medicine University of Electronic Science and Technology of China Department of Ophthalmology Sichuan Academy of Medical Science and Sichuan Provincial People’s hospital School of Medicine University of Electronic Science and Technology of China Department of Ophthalmology Beijing Tongren Hospital Capital Medical University
会议名称：《中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会》
会议日期：2016年
学科分类：100208[医学-临床检验诊断学] 1002[医学-临床医学] 100212[医学-眼科学] 10[医学]
摘 要：目的 RP is highly heterogeneity. WES represents a significant promotion in identification mutatio ns for Mendelian diseases. 方法 WES analysis to identify novel mutations for 95 sporadic patients with RP. 结果 The overall presumptive diagnostic rate for our cohort was 40.0%. 48 mutations were identif ied in 22 RP genes, 42 of these mutations were novel. 结论 The high mutations detection rate of WES in our study supports its use in heterogeneous retinal disease practice for molecular diagnosis and genetic counseling.