ArticleHuman mutation2010
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 89 citations in OpenAlex.
- Atypical retinitis pigmentosa associated withAmerican journal of ophthalmology case reports · 2026Article
- Prospective natural history and clinical biomarkers of EYS-associated retinopathy in the KEYS study.Scientific reports · 2026Article
- A Tripartite AAV System with Engineered Lox Sites Enables Efficient Delivery of theHuman gene therapy · 2026Article
- Generation of a human-induced pluripotent stem cell line from a retinitis pigmentosa patient carrying biallelic mutations in EYS gene.Human cell · 2026Article
- The mutational and clinical spectrum ofFrontiers in genetics · 2026Article
- Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach.Molecular genetics & genomic medicine · 2024Article
- Article
- Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.Scientific reports · 2024Article
- Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.Mobile DNA · 2024Article
- Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction.JCI insight · 2024Article
- Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa.PloS one · 2024Article
- Article
- Deletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors.International journal of molecular sciences · 2022Article
- Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.Eye (London, England) · 2022Article
- EYS-Associated Sector Retinitis Pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option forInternational journal of molecular sciences · 2021Article
- Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.Orphanet journal of rare diseases · 2021Review
- Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.Molecular vision · 2021Article
- Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
16 authors at 9 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene(EYS) encoding an ortholog of Drosophila space maker (spam) as a commonly mutated gene in autosomal recessive RP. In the present study, we report the identification of 73 sequence variations in EYS, of which 28 are novel. Of these, 42.9% (12/28) are very likely pathogenic, 17.9% (5/28)are possibly pathogenic, whereas 39.3% (11/28) are SNPs. In addition, we have detected 3 pathogenic changes previously reported in other populations. We are also presenting the characterisation of EYS homologues in different species, and a detailed analysis of the EYS domains, with the identification of an interesting novel feature: a putative coiled-coil domain.Majority of the mutations in the arRP patients have been found within the domain structures of EYS. The minimum observed prevalence of distinct EYS mutations in our group of patients is of 15.9% (15/94), confirming a major involvement of EYS in the pathogenesis of arRP in the Spanish population. Along with the detection of three recurrent mutations in Caucasian population, our hypothesis of EYS being the first prevalent gene in arRP has been reinforced in the present study.
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