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.
基金：
National
Natural Science Foundation of China (http://www.
nsfc.gov.cn/ grant number: 81170877 & 81470666
LY); The clinical Key Project of Peking University
Third Hospital (BYSY2014004 LY); The Seeding
Grant for Medicine and Life Sciences of Peking
University (2014-MB-20 LY); and a Peking University
grant for translational research (ZM).
第一作者机构：[1]Peking Univ, Key Lab Vis Loss & Restorat, Hosp 3, Dept Ophthalmol,Minist Educ, Beijing 100871, Peoples R China
共同第一作者：
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推荐引用方式(GB/T 7714)：
Yang Liping,Cui Hui,Yin Xiaobei,et al.Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing[J].PLOS ONE.2015,10(10):doi:10.1371/journal.pone.0140684.
APA：
Yang, Liping,Cui, Hui,Yin, Xiaobei,Dou, Hongliang,Zhao, Lin...&Ma, Zhizhong.(2015).Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.PLOS ONE,10,(10)
MLA：
Yang, Liping,et al."Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing".PLOS ONE 10..10(2015)
