Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study
Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous diseases involving more than 280 genes and no less than 20 different clinical phenotypes. In this study, our aims were to identify the disease-causing gene variants of 319 Chinese patients with IRD, and compare the pros and cons of targeted panel sequencing and whole exome sequencing (WES). Patients were assigned for analysis with a hereditary eye disease enrichment panel (HEDEP) or WES examination based on time of recruitment. This HEDEP was able to capture 441 hereditary eye disease genes, which included 291 genes related to IRD. As RPGR ORF15 was difficult to capture, all samples were subjected to Sanger sequencing for this region. Among the 163 disease-causing variants identified in this study, 73 had been previously reported, and the other 90 were novel. Genes most commonly implicated in different inheritances of IRDs in this cohort were presented. HEDEP and WES achieved diagnostic yield with 41.2% and 33.0%, respectively. In addition, nine patients were found to carry pathogenic mutations in the RPGR ORF15 region with Sanger sequencing. Our study demonstrates that HEDEP can be used as a first-tier test for patients with IRDs.
基金：
National Natural Science Foundation of China (grant numbers 81770966
and 81470666 to L.Y., and 81271046 to G.L.); the Clinical Key Project of Peking University Third Hospital (grant
number BYSY2014004 to L.Y.); the Seeding Grant forMedicine and Life Sciences of Peking University (grant number
2014-MB-20 to L.Y.); Joint program of BeijingMunicipal Natural Science Foundation (category B to G.L.); and Beijing
educational committee (key project) (grant number KZ201510025025 to G.L.).
第一作者机构：[1]Peking Univ, Hosp 3, Sch Basic Med Sci, Inst Syst Biomed, Beijing 100191, Peoples R China[2]Peking Univ, Hosp 3, Sch Basic Med Sci, Dept Ophthalmol, Beijing 100191, Peoples R China[3]Peking Univ, Hlth Sci Ctr, Sch Basic Med Sci, Beijing Key Lab Tumor Syst Biol,Dept Pathol, Beijing 100191, Peoples R China
通讯作者：
通讯机构：[1]Peking Univ, Hosp 3, Sch Basic Med Sci, Inst Syst Biomed, Beijing 100191, Peoples R China[2]Peking Univ, Hosp 3, Sch Basic Med Sci, Dept Ophthalmol, Beijing 100191, Peoples R China[4]Peking Univ, Hosp 3, Beijing Key Lab Restorat Damaged Ocular Nerve, Beijing 100191, Peoples R China
推荐引用方式(GB/T 7714)：
Wang Likun,Zhang Jinlu,Chen Ningning,et al.Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study[J].GENES.2018,9(7):doi:10.3390/genes9070360.
APA：
Wang, Likun,Zhang, Jinlu,Chen, Ningning,Wang, Lei,Zhang, Fengsheng...&Yang, Liping.(2018).Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.GENES,9,(7)
MLA：
Wang, Likun,et al."Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study".GENES 9..7(2018)
