ArticleAmerican journal of human genetics2000
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 165 papers, 1 of them a synthesis that pooled it.
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165 citing papers in PubMed, 1 synthesis or guideline pooled it, 343 citations in OpenAlex.
- Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.Investigative ophthalmology & visual science · 2022Pooled it
- In Silico Prioritization of Variants of Uncertain Significance in ABCA4 Reveals Conserved Functional Motifs.Research square · 2026Article
- ABCA4-mutant human retinal organoids sequencing reveals organoids application in inherited retinal diseases.Experimental eye research · 2025Article
- Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.Translational vision science & technology · 2025Article
- Review
- Dysregulated DNA Methylation inInternational journal of molecular sciences · 2025Article
- A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- ABCA4-associated disease in childhood and adolescence- a phenotype study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Article
- Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1.Human molecular genetics · 2025Article
- Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.BMC ophthalmology · 2025Article
- Clinical and Genetic Characteristics of 18 Patients from Southeast China with ABCA4-Associated Stargardt Disease.International journal of molecular sciences · 2025Article
- Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics.JCI insight · 2024Article
- Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.Molecular genetics and genomics : MGG · 2024Article
- A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.Ophthalmology · 2024Article
- Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.Stem cell research & therapy · 2024Article
- Impaired cathepsin D in retinal pigment epithelium cells mediates Stargardt disease pathogenesis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Review
- Article
- ABCA4 mediated traumatic proliferative vitreoretinopathy associated with PI3K/Akt signaling pathway.Heliyon · 2024Article
- Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants.Molecular therapy. Nucleic acids · 2024Article
105 more citing papers are in PubMed but not listed here.
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8 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
The photoreceptor cell-specific ATP-binding cassette transporter gene (ABCA4; previously denoted "ABCR") is mutated, in most patients, with autosomal recessive (AR) Stargardt disease (STGD1) or fundus flavimaculatus (FFM). In addition, a few cases with AR retinitis pigmentosa (RP) and AR cone-rod dystrophy (CRD) have been found to have ABCA4 mutations. To evaluate the importance of the ABCA4 gene as a cause of AR CRD, we selected 5 patients with AR CRD and 15 patients from Germany and The Netherlands with isolated CRD. Single-strand conformation-polymorphism analysis and sequencing revealed 19 ABCA4 mutations in 13 (65%) of 20 patients. In six patients, mutations were identified in both ABCA4 alleles; in seven patients, mutations were detected in one allele. One complex ABCA4 allele (L541P;A1038V) was found exclusively in German patients with CRD; one patient carried this complex allele homozygously, and five others were compound heterozygous. These findings suggest that mutations in the ABCA4 gene are the major cause of AR CRD. A primary role of the ABCA4 gene in STGD1/FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABCA4 gene could be the most frequent cause of inherited retinal dystrophy in humans.
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