ArticleEuropean journal of human genetics : EJHG2008
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Article in European journal of human genetics : EJHG, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 60 citations in OpenAlex.
- Cellular-Level Characterization of Cone Photoreceptors and Retinal Pigment Epithelium in Stargardt Disease with Adaptive Optics Imaging.Ophthalmology science · 2026Article
- Systematic Identification of Candidate Genes for Inherited Retinal Disease Gene Therapy Integrating Worldwide IRD Cohort and Single-Cell Analysis.Journal of ophthalmology · 2025Review
- Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variantMolecular therapy. Nucleic acids · 2023Article
- Compendium of Clinical Variant Classification for 2,246 UniqueHuman mutation · 2023Article
- Identification of putative genetic variants in major depressive disorder patients in Pakistan.Molecular biology reports · 2022Article
- Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation.Translational vision science & technology · 2022Article
- The role of activating transcription factor 6 in hydroxycamptothecin-induced fibroblast autophagy and apoptosis.Journal of orthopaedic surgery and research · 2021Article
- A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.International journal of molecular sciences · 2020Article
- The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.European journal of human genetics : EJHG · 2020Article
- Article
- Lessons learned from quantitative fundus autofluorescence.Progress in retinal and eye research · 2020Review
- Functional Relevance and Structural Correlates of Near Infrared and Short Wavelength Fundus Autofluorescence Imaging inTranslational vision science & technology · 2019Article
- Retinal dystrophies with bull's-eye maculopathy along with negative ERGs.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Comparison of Green Versus Blue Fundus Autofluorescence inTranslational vision science & technology · 2018Article
- Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Scientific reports · 2018Article
- Retinal phenotypic characterization of patients withMolecular vision · 2018Article
- The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.Ophthalmology · 2018Article
- Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.Clinical ophthalmology (Auckland, N.Z.) · 2018Article
- Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Scientific reports · 2016Article
- Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.Molecular vision · 2016Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
The ATP-binding cassette (ABC) transporters constitute a family of large membrane proteins, which transport a variety of substrates across membranes. The ABCA4 protein is expressed in photoreceptors and possibly functions as a transporter for N-retinylidene-phosphatidylethanolamine (N-retinylidene-PE), the Schiff base adduct of all-trans-retinal with PE. Mutations in the ABCA4 gene have been initially associated with autosomal recessive Stargardt disease. Subsequent studies have shown that mutations in ABCA4 can also cause a variety of other retinal dystrophies including cone rod dystrophy and retinitis pigmentosa. To determine the prevalence and mutation spectrum of ABCA4 gene mutations in non-Stargardt phenotypes, we have screened 64 unrelated patients with autosomal recessive cone (arCD) and cone rod dystrophy (arCRD) applying the Asper Ophthalmics ABCR400 microarray followed by DNA sequencing of all coding exons of the ABCA4 gene in subjects with single heterozygous mutations. Disease-associated ABCA4 alleles were identified in 20 of 64 patients with arCD or arCRD. In four of 64 patients (6%) only one mutant ABCA4 allele was detected and in 16 patients (25%), mutations on both ABCA4 alleles were identified. Based on these data we estimate a prevalence of 31% for ABCA4 mutations in arCD and arCRD, supporting the concept that the ABCA4 gene is a major locus for various types of degenerative retinal diseases with abnormalities in cone or both cone and rod function.
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