ArticlePloS one2015
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Bietti crystalline corneoretinal dystrophy: Advances in understanding and gene therapeutic approaches.Molecular vision · 2025Review
- Compound heterozygous mutations inHeliyon · 2024Article
- Mutational Profile and Retinal Phenotypes ofJournal of ophthalmology · 2024Article
- Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.International journal of molecular sciences · 2023Review
- Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports.Journal of medical case reports · 2023Article
- Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.BMC ophthalmology · 2022Article
- [Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2020Article
- Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.International ophthalmology · 2020Article
- Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy.International journal of ophthalmology · 2020Article
- Article
- Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.BMC ophthalmology · 2017Article
- Gene panel sequencing in Brazilian patients with retinitis pigmentosa.International journal of retina and vitreous · 2017Article
- A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa.Human genetics · 2016Article
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10 authors.
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Abstract
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.
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