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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing
Zhao, Lin1; Yang, Liping1; Cui, Hui2; Yin, Xiaobei2; Dou, Hongliang1; Chen, Ningning1; Zhang, Jinlu1; Zhang, Huirong1; Li, Genlin2; Ma, Zhizhong1
刊名PLOS ONE
2015-10-23
DOI10.1371/journal.pone.0140684
10期:10
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]DOMINANT RETINITIS-PIGMENTOSA ; RETINAL DYSTROPHIES ; RHODOPSIN GENE ; MUTATIONS ; FAMILIES ; IDENTIFICATION
英文摘要

Retinitis pigmentosa (RP) is the most common inherited retinal disease. It is a clinically and genetically heterogeneous disorder, which is why it is particularly challenging to diagnose. The aim of this study was to establish a targeted next-generation sequencing (NGS) approach for the comprehensive, rapid, and cost-effective clinical molecular diagnosis of RP. A specific hereditary eye disease enrichment panel (HEDEP) based on exome capture technology was used to collect the protein coding regions of 371 targeted hereditary eye disease genes, followed by high-throughput sequencing on the Illumina HiSeq2000 platform. From a cohort of 34 Chinese RP families, 13 families were successfully diagnosed; thus, the method achieves a diagnostic rate of approximately 40%. Of 16 pathogenic mutations identified, 11 were novel. Our study demonstrates that targeted capture sequencing offers a rapid and effective method for the molecular diagnosis of RP, which helps to provide a more accurate clinical diagnosis and paves the way for genetic counseling, family planning, and future gene-targeted treatment.

语种英语
WOS记录号WOS:000363309200027
项目编号81170877 ; 81470666 ; BYSY2014004 ; 2014-MB-20
资助机构National Natural Science Foundation of China ; clinical Key Project of Peking University Third Hospital ; Seeding Grant for Medicine and Life Sciences of Peking University ; Peking University
引用统计
被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50055
专题北京大学第三临床医学院
北京大学基础医学院
北京大学第三临床医学院_眼科
作者单位1.Peking Univ, Key Lab Vis Loss & Restorat, Hosp 3, Dept Ophthalmol,Minist Educ, Beijing 100871, Peoples R China
2.Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing, Peoples R China
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GB/T 7714
Zhao, Lin,Yang, Liping,Cui, Hui,et al. Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing[J]. PLOS ONE,2015,10(10).
APA Zhao, Lin.,Yang, Liping.,Cui, Hui.,Yin, Xiaobei.,Dou, Hongliang.,...&Ma, Zhizhong.(2015).Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.PLOS ONE,10(10).
MLA Zhao, Lin,et al."Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing".PLOS ONE 10.10(2015).
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