ArticleMolecular vision2012
Microarray-based mutation detection and phenotypic characterization in Korean patients with 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 23 papers.
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23 citing papers in PubMed, 34 citations in OpenAlex.
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- Clinical Characteristics and Visual Prognostic Biomarkers in Pericentral Retinitis Pigmentosa: A Study in a South Korean Cohort.Korean journal of ophthalmology : KJO · 2025Article
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- Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.Frontiers in neuroscience · 2023Review
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- Clinical Phenotype ofInternational journal of molecular sciences · 2021Observational
- Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.Molecular vision · 2021Article
- Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.Progress in retinal and eye research · 2020Review
- HeterozygousBioscience reports · 2019Article
- A novel intronic mutation ofMolecular vision · 2019Article
- Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort.Journal of ophthalmology · 2017Article
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- Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.Scientific reports · 2016Article
- AAV-mediated Gene Therapy Halts Retinal Degeneration in PDE6β-deficient Dogs.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
- Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.Scientific reports · 2016Article
- Novel mutations in PDE6B causing human retinitis pigmentosa.International journal of ophthalmology · 2016Article
- Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.Molecular vision · 2016Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate microarray-based genotyping technology for the detection of mutations responsible for retinitis pigmentosa (RP) and to perform phenotypic characterization of patients with pathogenic mutations.
methodsDNA from 336 patients with RP and 360 controls was analyzed using the GoldenGate assay with microbeads containing 95 previously reported disease-associated mutations from 28 RP genes. Mutations identified by microarray-based genotyping were confirmed by direct sequencing. Segregation analysis and phenotypic characterization were performed in patients with mutations. The disease severity was assessed by visual acuity, electroretinography, optical coherence tomography, and kinetic perimetry.
resultsTen RP-related mutations of five RP genes (PRP3 pre-mRNA processing factor 3 homolog [PRPF3], rhodopsin [RHO], phosphodiesterase 6B [PDE6B], peripherin 2 [PRPH2], and retinitis pigmentosa 1 [RP1]) were identified in 26 of the 336 patients (7.7%) and in six of the 360 controls (1.7%). The p.H557Y mutation in PDE6B, which was homozygous in four patients and heterozygous in nine patients, was the most frequent mutation (2.5%). Mutation segregation was assessed in four families. Among the patients with missense mutations, the most severe phenotype occurred in patients with p.D984G in RP1; less severe phenotypes occurred in patients with p.R135W in RHO; a relatively moderate phenotype occurred in patients with p.T494M in PRPF3, p.H557Y in PDE6B, or p.W316G in PRPH2; and a mild phenotype was seen in a patient with p.D190N in RHO.
conclusionsThe results reveal that the GoldenGate assay may not be an efficient method for molecular diagnosis in RP patients with rare mutations, although it has proven to be reliable and efficient for high-throughput genotyping of single-nucleotide polymorphisms. The clinical features varied according to the mutations. Continuous effort to identify novel RP genes and mutations in a population is needed to improve the efficiency and accuracy of the genetic diagnosis of RP.
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