ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. 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, 32 citations in OpenAlex.
- Trial
- Cone Rod Homeobox (Ophthalmic genetics · 2025Review
- Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.HGG advances · 2023Article
- Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
- Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in theGenes · 2023Article
- Compendium of Clinical Variant Classification for 2,246 UniqueHuman mutation · 2023Article
- PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family.Arquivos brasileiros de oftalmologia · 2023Article
- Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.PLoS genetics · 2022Article
- Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.Investigative ophthalmology & visual science · 2022Article
- PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Human mutation · 2021Article
- Sequencing-based genome-wide association studies reporting standards.Cell genomics · 2021Article
- Commentary on "Evidence of complement dysregulation in outer retina of Stargardt disease donor eyes".Redox biology · 2021Article
- An Overview of the Genetics ofGenes · 2021Review
- Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.BMC ophthalmology · 2021Article
- ATAV: a comprehensive platform for population-scale genomic analyses.BMC bioinformatics · 2021Article
- Whole-exome sequencing identifies susceptibility genes and pathways for idiopathic pulmonary fibrosis in the Chinese population.Scientific reports · 2021Article
- Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.Translational vision science & technology · 2021Article
- Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Progress in retinal and eye research · 2020Review
- Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.Translational vision science & technology · 2020Review
- Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.Investigative ophthalmology & visual science · 2020Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
purposeVariants in the ABCA4 gene are causal for a variety of retinal dystrophy phenotypes, including Stargardt disease (STGD1). However, 15% of patients who present with symptoms compatible with STGD1/ABCA4 disease do not have identifiable causal ABCA4 variants. We hypothesized that a case-control collapsing analysis in ABCA4-negative patients with compatible symptoms would provide an objective measure to identify additional disease genes.
methodsWe performed a genome-wide enrichment analysis of "qualifying variants"-ultrarare variants predicted to impact protein function-in protein-coding genes in 79 unrelated cases and 9028 unrelated controls.
resultsDespite modest sample size, two known retinal dystrophy genes, PRPH2 and CRX, achieved study-wide significance (p < 1.33 × 10
conclusionOur results indicate that case-control collapsing analyses can efficiently identify pathogenic variants in genes in non-ABCA4 retinal dystrophies. The genome-wide collapsing analysis framework is an objective discovery method particularly suitable in settings with overlapping disease phenotypes.
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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.