Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing

作者：Yang, Liping; Cui, Hui; Yin, Xiaobei; Dou, Hongliang; Zhao, Lin; Chen, Ningning; Zhang, Jinlu; Zhang, Huirong; Li, Genlin^*; Ma, Zhizhong

来源：PLos One, 2015, 10(10): e0140684.

DOI：10.1371/journal.pone.0140684

• DOMINANT RETINITIS-PIGMENTOSA
• RETINAL DYSTROPHIES
• RHODOPSIN GENE
• MUTATIONS
• FAMILIES
• IDENTIFICATION

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.

• 出版日期2015-10-23
• 单位首都医科大学; 北京大学