ArticleHuman mutation2014
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
31 citing papers in PubMed, 51 citations in OpenAlex.
- Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.The Journal of clinical investigation · 2015Trial
- Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.BioMed research international · 2015Trial
- ABCA4-Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants.Molecular genetics & genomic medicine · 2026Article
- Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.Translational vision science & technology · 2025Article
- Biallelic loss-of-function variants inJournal of medical genetics · 2025Article
- Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.Investigative ophthalmology & visual science · 2025Article
- Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease.Translational vision science & technology · 2025Review
- Identification and functional characterization ofFrontiers in genetics · 2025Article
- Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans.Translational vision science & technology · 2024Review
- Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.Scientific reports · 2022Article
- An Overview of the Genetics ofGenes · 2021Review
- The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.NPJ genomic medicine · 2021Article
- Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants inInternational journal of molecular sciences · 2021Article
- Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.BMC medical genomics · 2021Article
- Article
- Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.Human mutation · 2020Article
- Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Progress in retinal and eye research · 2020Review
- Genetic spectrum of retinal dystrophies in Tunisia.Scientific reports · 2020Article
- A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Autosomal recessive Stargardt disease (STGD1) is caused by hundreds of mutations in the ABCA4 gene, which are often specific to racial and ethnic groups. Here, we investigated the ABCA4 variation and their phenotypic expression in a cohort of 44 patients of African American descent, a previously under-characterized racial group. Patients were screened for mutations in ABCA4 by next-generation sequencing and array-comparative genomic hybridization (aCGH), followed by analyses for pathogenicity by in silico programs. Thorough ophthalmic examination was performed on all patients. At least two (expected) disease-causing alleles in the ABCA4 gene were identified in 27 (61.4%) patients, one allele in 11 (25%) patients, and no ABCA4 mutations were found in six (13.6%) patients. Altogether, 39 different disease-causing ABCA4 variants, including seven new, were identified on 65 (74%) chromosomes, most of which were unique for this racial group. The most frequent ABCA4 mutation in this cohort was c.6320G>A (p.(R2107H)), representing 19.3% of all disease-associated alleles. No large copy number variants were identified in any patient. Most patients reported later onset of symptoms. In summary, the ABCA4 mutation spectrum in patients of West African descent differs significantly from that in patients of European descent, resulting in a later onset and "milder" disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.