Evidence map›Paper›PMID 26247048›Full record

ArticleMolecular genetics & genomic medicine2015

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient.

Kane Greer, Kayla Mizzi, Emily Rice, Lukas Kuster, Roberto A Barrero, Matthew I Bellgard, Bryan J Lynch, Aileen Reghan Foley, Eoin O Rathallaigh, Steve D Wilton and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
1.4field-weighted citation impact, top 20% of its field
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

18 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Pseudoexons of the DMD Gene.Journal of neuromuscular diseases · 2020
    Review
  11. Article
  12. Article
  13. Review
  14. Review
  15. Article
  16. Article
  17. Lessons from non-canonical splicing.Nature reviews. Genetics · 2016
    Review
  18. Article
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

11 authors at 4 institutions in 2 countries.

Kane GreerCentre for Comparative Genomics, Murdoch University 90 South St, Murdoch, Western Australia, 6150, Australia ; The University of Western Australia 35 Stirling Highway, Crawley, Western Australia, 6009, Australia.
Kayla MizziThe University of Western Australia 35 Stirling Highway, Crawley, Western Australia, 6009, Australia.
Emily RiceThe University of Western Australia 35 Stirling Highway, Crawley, Western Australia, 6009, Australia.
Lukas KusterThe University of Western Australia 35 Stirling Highway, Crawley, Western Australia, 6009, Australia.
Roberto A BarreroCentre for Comparative Genomics, Murdoch University 90 South St, Murdoch, Western Australia, 6150, Australia.
Matthew I BellgardCentre for Comparative Genomics, Murdoch University 90 South St, Murdoch, Western Australia, 6150, Australia.
Bryan J LynchChildren's University Hospital Temple Street, Dublin, Ireland.
Aileen Reghan FoleyChildren's University Hospital Temple Street, Dublin, Ireland.
Eoin O RathallaighDepartment of Physiotherapy, Central Remedial Clinic Dublin, Ireland.
Steve D WiltonCentre for Comparative Genomics, Murdoch University 90 South St, Murdoch, Western Australia, 6150, Australia ; The University of Western Australia 35 Stirling Highway, Crawley, Western Australia, 6009, Australia ; Western Australian Neuroscience Institute Nedlands, Western Australia, 6009, Australia.
Sue FletcherCentre for Comparative Genomics, Murdoch University 90 South St, Murdoch, Western Australia, 6150, Australia ; The University of Western Australia 35 Stirling Highway, Crawley, Western Australia, 6009, Australia ; Western Australian Neuroscience Institute Nedlands, Western Australia, 6009, Australia.
Murdoch University · AUThe University of Western Australia · AUTemple Street Children's University Hospital · IECentral Remedial Clinic · IE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a dystrophinopathy patient with an in-frame deletion of DMD exons 45-47, and therefore a genetic diagnosis of Becker muscular dystrophy, who presented with a more severe than expected phenotype. Analysis of the patient DMD mRNA revealed an 82 bp pseudoexon, derived from intron 44, that disrupts the reading frame and is expected to yield a nonfunctional dystrophin. Since the sequence of the pseudoexon and canonical splice sites does not differ from the reference sequence, we concluded that the genomic rearrangement promoted recognition of the pseudoexon, causing a severe dystrophic phenotype. We characterized the deletion breakpoints and identified motifs that might influence selection of the pseudoexon. We concluded that the donor splice site was strengthened by juxtaposition of intron 47, and loss of intron 44 silencer elements, normally located downstream of the pseudoexon donor splice site, further enhanced pseudoexon selection and inclusion in the DMD transcript in this patient.

Indexed as

Cryptic splicingDuchenne/Becker muscular dystrophydystrophinexon splicing enhancerpseudoexon

Identifiers

PMID26247048
PMCPMC4521967
OpenAlexW2051422112

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.