ArticleHuman molecular genetics2024
Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Article in Human molecular genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.Stem cell reviews and reports · 2025Pooled it
- Production of clinical grade patient iPSC-derived 3D retinal organoids containing transplantable photoreceptor cells.Stem cell research & therapy · 2025Article
- USH2A-Mutated Human Retinal Organoids Model Rod-Cone Dystrophy.Investigative ophthalmology & visual science · 2025Article
- Device-free isolation of photoreceptor cells from patient iPSC-derived retinal organoids.JCI insight · 2025Article
- Investigation of ABCA4 Missense Variants and Potential Small Molecule Rescue in Retinal Organoids.Investigative ophthalmology & visual science · 2025Article
- Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.The Journal of pathology · 2025Article
- Longitudinal scRNA-seq of retinal organoids derived from Stargardt disease patient with ABCA4 mutation.Scientific data · 2025Article
- Exonic splice variant discovery using in vitro models of inherited retinal disease.HGG advances · 2025Article
- Conditional Immortalization Using SV40 Large T Antigen and Its Effects on Induced Pluripotent Stem Cell Differentiation Toward Retinal Progenitor Cells.Stem cells and development · 2025Article
- A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.Ophthalmology · 2024Article
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Authors and funding
11 authors.
Funding
Abstract
Mutations in ABCA4 are the most common cause of Mendelian retinal disease. Clinical evaluation of this gene is challenging because of its extreme allelic diversity, the large fraction of non-exomic mutations, and the wide range of associated disease. We used patient-derived retinal organoids as well as DNA samples and clinical data from a large cohort of patients with ABCA4-associated retinal disease to investigate the pathogenicity of a variant in ABCA4 (IVS30 + 1321 A>G) that occurs heterozygously in 2% of Europeans. We found that this variant causes mis-splicing of the gene in photoreceptor cells such that the resulting protein contains 36 incorrect amino acids followed by a premature stop. We also investigated the phenotype of 10 patients with compound genotypes that included this mutation. Their median age of first vision loss was 39 years, which is in the mildest quintile of a large cohort of patients with ABCA4 disease. We conclude that the IVS30 + 1321 A>G variant can cause disease when paired with a sufficiently deleterious opposing allele in a sufficiently permissive genetic background.
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