Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.

Senem Cevik, Subhasis B Biswas, Esther E Biswas-Fiss

Abstract readReview

In one paragraph

Review in Advances in experimental medicine and biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Senem CevikDepartment of Medical and Molecular Sciences, College of Health Sciences, University of Delaware, Newark, DE, USA.

Subhasis B BiswasDepartment of Medical and Molecular Sciences, College of Health Sciences, University of Delaware, Newark, DE, USA.

Esther E Biswas-FissDepartment of Medical and Molecular Sciences, College of Health Sciences, University of Delaware, Newark, DE, USA. ebiswas@udel.edu.

Funding

Understanding ABCA4 Variants of Unknown Significance Through Computational and Functional ApproachesR01EY036065 · NEI · UNIVERSITY OF DELAWARE · PI ESTHER Elissa BISWAS-FISS · 2024 to 2026

$1.4M

NEI NIH HHS R01 EY036065

6 · The paper itself

Abstract

Genetic variants of ABCA4 are associated with a spectrum of inherited retinal degenerations, causing progressive vision loss due to rod and cone photoreceptor death and retinal pigment epithelium atrophy, ultimately leading to blindness. Understanding the functional implications and assessing the pathogenicity of the extensive number of ABCA4 variants, which exceed 3000, remains a formidable challenge. A substantial proportion of these variants remain categorized as variants of uncertain significance (VUS) or exhibit conflicting clinical interpretations (CI). Determining variant pathogenicity is imperative for clinicians to assess long-term outcomes and facilitate precise patient enrollment in ongoing clinical trials. This review aims to provide an overview of the current methodologies used to assess the functional characteristics of ABCA4 variants.

Indexed as

ATP-Binding Cassette TransportersGenetic VariationMutationRetinal DegenerationAnimalsGenetic Predisposition to DiseaseHumansABCA4 protein, humanATP-Binding Cassette TransportersABCA4ABCA4-associated retinopathyABC transporterFunctional characterizationGenetic variantsInherited retinal degenerationStargardt diseaseVariants of Uncertain Significance (VUS)

Identifiers

PMID39930174

DOI10.1007/978-3-031-76550-6_11

PMCPMC12967163

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Registered trials

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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.