Evidence map›Paper›PMID 39808262›Full record

ArticleForensic science, medicine, and pathology2025

A novel COL3A1 gene variant associated with sudden death due to spontaneous pneumothorax.

Syeda Hania Qamar, Maliha Khara, Jayantha C Herath

Abstract readCase Reports
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In one paragraph

Article in Forensic science, medicine, and pathology, 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. 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

3 authors.

Syeda Hania QamarDepartment of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada. hania.qamar@mail.utoronto.ca.ORCID http://orcid.org/0009-0008-4855-1860
Maliha KharaDepartment of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Jayantha C HerathDepartment of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spontaneous pneumothorax (SP) is a condition defined by abnormal gas accumulation in the chest cavity. Mutations of the collagen type III alpha 1 chain, COL3A1 gene, are primarily linked to vascular Ehlers-Danlos syndrome (vEDS); however, they can also contribute to structural changes in the tissue, like bullae of the lungs. In this case report, we present a young, thinly built boy who died due to a spontaneous pneumothorax. Post-mortem genetic testing revealed a novel COL3A1 mutation, likely contributing to the pathogenic events underlying death due to spontaneous pneumothorax. We recommend implementing genetic testing of correlative or causative genes in the context of SP.

Indexed as

Collagen Type IIIDeath, SuddenMutationPneumothoraxHumansMaleCOL3A1 protein, humanCollagen Type IIICOL3A1 mutationGenetic testingSpontaneous pneumothorax

Identifiers

PMID39808262

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.