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<p>Spontaneous pneumothorax (SP) is a condition defined by abnormal gas accumulation in the chest cavity. Mutations of the collagen type III alpha 1 chain, <i>COL3A1</i> 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 <i>COL3A1</i> 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.</p>

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

  • 期刊论文

  • 发表日期：

    2025年1月14日

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  • Syeda Hania Qamar,
  • Maliha Khara,
  • Jayantha C. Herath

摘要

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.