ArticleScientific reports2017
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Severe bilateral retinal degeneration following a twenty-six-year pentosan polysulfate sodium exposure: a case report.American journal of ophthalmology case reports · 2026Article
- Bilateral Choroidal Neovascular Membranes in a Patient With a C1QTNF5 Mutation Managed With Long-Term Anti-VEGF Therapy and PRN Protocol: A Case Report.Case reports in ophthalmological medicine · 2026Article
- Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes.Nature communications · 2025Article
- Olfactory ensheathing cells from adult female rats are hybrid glia that promote neural repair.eLife · 2025Article
- Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function.Advances in experimental medicine and biology · 2025Review
- Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.Investigative ophthalmology & visual science · 2023Article
- Construction of an Exudative Age-Related Macular Degeneration Diagnostic and Therapeutic Molecular Network Using Multi-Layer Network Analysis, a Fuzzy Logic Model, and Deep Learning Techniques: Are Retinal and Brain Neurodegenerative Disorders Related?Pharmaceuticals (Basel, Switzerland) · 2023Article
- Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.The American journal of pathology · 2023Article
- Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging.BMJ open ophthalmology · 2023Article
- Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration.Nature communications · 2022Article
- Long anterior lens zonules with retinal stripes: a case report.BMC ophthalmology · 2022Article
- Evolving Patterns of Hyperfluorescent Fundus Autofluorescence Accompany Retinal Atrophy in the Rat and Mimic Atrophic Age-Related Macular Degeneration.Translational vision science & technology · 2022Article
- Late-Onset Retinal Degeneration: Clinical Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2022Review
- Genome-Editing Strategies for Treating Human Retinal Degenerations.Human gene therapy · 2021Review
- Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a NovelInternational journal of molecular sciences · 2021Article
- Genomic Regions Related to White/Black Tail Feather Color in Dwarf Chickens Identified Using a Genome-Wide Association Study.Frontiers in genetics · 2021Article
- Identification of pathogenic missense mutations using protein stability predictors.Scientific reports · 2020Article
- Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.Aging cell · 2019Article
- Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Multimodal imaging of late-onset retinal degeneration complicated by bilateral choroidal neovascularization.Eye (London, England) · 2019Article
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Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
Abstract
Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy, characterised by extensive sub-retinal pigment epithelium (RPE) deposits, RPE atrophy, choroidal neovascularisation and photoreceptor cell death associated with severe visual loss. L-ORD shows striking phenotypic similarities to age-related macular degeneration (AMD), a common and genetically complex disorder, which can lead to misdiagnosis in the early stages. To date, a single missense mutation (S163R) in the C1QTNF5 gene, encoding C1q And Tumor Necrosis Factor Related Protein 5 (C1QTNF5) has been shown to cause L-ORD in a subset of affected families. Here, we describe the identification and characterisation of three novel pathogenic mutations in C1QTNF5 in order to elucidate disease mechanisms. In silico and in vitro characterisation show that these mutations perturb protein folding, assembly or polarity of secretion of C1QTNF5 and, importantly, all appear to destabilise the wildtype protein in co-transfection experiments in a human RPE cell line. This suggests that the heterozygous mutations in L-ORD show a dominant negative, rather than a haploinsufficient, disease mechanism. The function of C1QTNF5 remains unclear but this new insight into the pathogenetic basis of L-ORD has implications for future therapeutic strategies such as gene augmentation therapy.
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