ArticleMolecular vision2008
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 37 citations in OpenAlex.
- Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.International journal of molecular sciences · 2024Article
- Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation.Translational vision science & technology · 2024Article
- Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.Japanese journal of ophthalmology · 2024Article
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- Genetics of Inherited Retinal Diseases in Understudied Populations.Frontiers in genetics · 2022Review
- Article
- Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Experimental eye research · 2020Review
- A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation.Frontiers in genetics · 2020Review
- Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.Japanese journal of ophthalmology · 2018Article
- Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.Scientific reports · 2017Article
- Medical genetics and genomic medicine in India: current status and opportunities ahead.Molecular genetics & genomic medicine · 2015Article
- Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.Human genetics · 2014Article
- Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.Molecular vision · 2014Article
- Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.Molecular vision · 2012Article
- Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.Molecular vision · 2011Article
- Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.BMC medical genetics · 2010Review
- Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.Investigative ophthalmology & visual science · 2010Article
- Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.Investigative ophthalmology & visual science · 2009Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo screen for possible disease-causing mutations in rhodopsin (RHO), pre-mRNA processing factor 31 (PRPF31), retinitis pigmentosa 1 (RP1), and inosine monophosphate dehydrogenase 1 (IMPDH1) genes in Indian patients with isolated and autosomal dominant forms of retinitis pigmentosa (adRP). Information on such data is not available in India and hence this study was undertaken.
methodsBlood samples were obtained from 48 isolated and 53 adRP patients, who were recruited for the study. Each patient underwent a detailed clinical examination. Genomic DNA was extracted from the blood samples and screened for mutations in four genes using an ABI3100 Avant genetic analyzer. Reverse transcriptase polymerase chain reaction was performed to amplify the mutated (IVS6+1G/A) mRNA of PRPF31 in a two-generation adRP family.
resultsOf the 101 probands analyzed, three harbored possible disease-causing mutations. Pathogenic changes were observed in RHO and PRPF31. A RHO mutation, p.Gly106Arg, was found in an isolated RP patient with sectoral RP. Two novel, heterozygous mutations were identified in PRPF31: p.Lys120GlufsX122 in an isolated RP patient and a splice site mutation, IVS6+1G/A in an adRP patient. However, no disease-causing changes were observed in RP1 and IMPDH1.
conclusionsWe screened RHO, PRPF31, RP1, and IMPDH1 and identified causative mutations in 4% of isolated and 2% of adRP patients from India. To the best of our knowledge, this is the first report to identify frequencies of mutations in isolated and adRP patients in India.
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18552984PMC2426732W2159894634What OpenQuestion holds
Registered trials
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