ArticleMolecular vision2010
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 1 of them a synthesis that pooled it.
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Who cites it
71 citing papers in PubMed, 1 synthesis or guideline pooled it, 105 citations in OpenAlex.
- The genetics of rod-cone dystrophy in Arab countries: a systematic review.European journal of human genetics : EJHG · 2021Pooled it
- Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.Human genetics · 2015Trial
- IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.BioMed research international · 2013Trial
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- Intraflagellar transport: A critical player in photoreceptor development and the pathogenesis of retinal degenerative diseases.Cytoskeleton (Hoboken, N.J.) · 2024Review
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.NPJ genomic medicine · 2023Article
- Novel compound heterozygous variants in theFrontiers in cell and developmental biology · 2023Article
- Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families.Iranian journal of public health · 2022Article
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated withInternational journal of molecular sciences · 2022Article
- Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.Investigative ophthalmology & visual science · 2022Article
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.Investigative ophthalmology & visual science · 2022Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.BMC ophthalmology · 2021Article
- Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.Scientific reports · 2021Article
- Updating the Genetic Landscape of Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Article
- Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.Molecular genetics & genomic medicine · 2020Article
11 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeRetinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 Spanish families using a genotyping microarray.
methods272 unrelated Spanish families, 107 with autosomal recessive RP (arRP) and 165 with sporadic RP (sRP), were studied using the APEX genotyping microarray. The families were also classified by clinical criteria: 86 juveniles and 186 typical RP families. Haplotype and sequence analysis were performed to identify the second mutated allele.
resultsAt least one-gene variant was found in 14% and 16% of the juvenile and typical RP groups respectively. Further study identified four new mutations, providing both causative changes in 11% of the families. Retinol Dehydrogenase 12 (RDH12) was the most frequently mutated gene in the juvenile RP group, and Usher Syndrome 2A (USH2A) and Ceramide Kinase-Like (CERKL) were the most frequently mutated genes in the typical RP group. The only variant found in CERKL was p.Arg257Stop, the most frequent mutation.
conclusionsThe genotyping microarray combined with segregation and sequence analysis allowed us to identify the causative mutations in 11% of the families. Due to the low number of characterized families, this approach should be used in tandem with other techniques.
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21151602PMC3000238W1571033899What OpenQuestion holds
Registered trials
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