Evidence map›Paper›PMID 39930173›Full record

ArticleAdvances in experimental medicine and biology2025

ABCA4 c.5461-6T>C Causes Stargardt Disease Through Exon Skipping.

Mathieu Quinodoz, Ana Belén Iglesias-Romero, Francesca Cancellieri, Karolina Kaminska, Hendrik P N Scholl, Maximilian Pfau, Carlo Rivolta

Abstract read
PubMed Publisher
In one paragraph

Article 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. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

7 authors.

Mathieu Quinodoz *Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland. mathieu.quinodoz@iob.ch.
Ana Belén Iglesias-Romero *Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Francesca CancellieriInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Karolina KaminskaInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Hendrik P N SchollInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Maximilian PfauInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Stargardt disease (STGD1) is an inherited retinal dystrophy that follows an autosomal recessive inheritance in which photoreceptors degenerate, leading to progressive vision loss that starts from the central retina. The severity of symptoms can vary considerably depending on the mutations: they range from severe childhood-onset to late-onset milder forms, the latter being caused by specific hypomorphic variants. In this study, we describe a novel non-canonical splicing variant: NM_000350.3:c.5461-6T>C. This variant was found in compound heterozygosity with a frequent pathogenic hypomorphic variant, p.Gly1961Glu, in a patient with Stargardt disease and her affected brother. In silico tools predicted a low effect on splicing, but experimental validation, in contrast, showed this DNA change to be causing severe splicing alterations.

Indexed as

ATP-Binding Cassette TransportersExonsMacular DegenerationStargardt DiseaseFemaleHumansMaleMutationPedigreeRNA SplicingABCA4 protein, humanATP-Binding Cassette TransportersABCA4Minigene assaySplicingSplicing predictionStargardt disease

Identifiers

PMID39930173

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.