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Case Reports
. 2025 Sep;21(3):1296-1298.
doi: 10.1007/s12024-025-00942-8. Epub 2025 Jan 14.

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

Syeda Hania Qamar  1   2 , Maliha Khara  3   4 , Jayantha C Herath  3   4
Affiliations
Case Reports

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

Syeda Hania Qamar et al. Forensic Sci Med Pathol. 2025 Sep.

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.

Keywords: COL3A1 mutation; Genetic testing; Spontaneous pneumothorax.

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Conflict of interest statement

Declarations. Conflict of interest: none of the authors have a conflict of interest to declare.

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