ArticleMolecular vision2012
Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Genetic and bioinformatic analysis of RHO and PRPH2 variants in north Indian retinitis pigmentosa patients.Japanese journal of ophthalmology · 2026Article
- Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor.Gene therapy · 2023Article
- Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.Molecular genetics & genomic medicine · 2020Article
- Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa.International ophthalmology · 2019Observational
- Article
- Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.PloS one · 2016Article
- Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.Investigative ophthalmology & visual science · 2015Article
- The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.BMC genomics · 2015Article
- Article
- Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.Molecular vision · 2015Article
- New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.Molecular vision · 2015Article
- Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.PloS one · 2015Article
- Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.Human genetics · 2014Article
- Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.Molecular vision · 2014Article
- Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families.BMJ open · 2013Article
- Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Investigative ophthalmology & visual science · 2013Article
- Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease.Science China. Life sciences · 2013Review
- Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.PloS one · 2013Article
- Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.Molecular vision · 2013Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePresently, 22 genes have been described in association with autosomal dominant retinitis pigmentosa (adRP); however, they explain only 50% of all cases, making genetic diagnosis of this disease difficult and costly. The aim of this study was to evaluate a specific genotyping microarray for its application to the molecular diagnosis of adRP in Spanish patients.
methodsWe analyzed 139 unrelated Spanish families with adRP. Samples were studied by using a genotyping microarray (adRP). All mutations found were further confirmed with automatic sequencing. Rhodopsin (RHO) sequencing was performed in all negative samples for the genotyping microarray.
resultsThe adRP genotyping microarray detected the mutation associated with the disease in 20 of the 139 families with adRP. As in other populations, RHO was found to be the most frequently mutated gene in these families (7.9% of the microarray genotyped families). The rate of false positives (microarray results not confirmed with sequencing) and false negatives (mutations in RHO detected with sequencing but not with the genotyping microarray) were established, and high levels of analytical sensitivity (95%) and specificity (100%) were found. Diagnostic accuracy was 15.1%.
conclusionsThe adRP genotyping microarray is a quick, cost-efficient first step in the molecular diagnosis of Spanish patients with adRP.
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22736939PMC3380913W2113880410What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.