一种新的COL3A1基因变异与自发性气胸猝死相关

IF 1.5 4区医学 Q2 MEDICINE, LEGAL

Forensic Science, Medicine and Pathology Pub Date : 2025-01-14 DOI:10.1007/s12024-025-00942-8

Syeda Hania Qamar, Maliha Khara, Jayantha C Herath

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引用次数: 0

摘要

自发性气胸（SP）是一种由胸腔内异常气体积聚所定义的疾病。胶原ⅲ型α - 1链COL3A1基因的突变主要与血管性ehers - danlos综合征（vEDS）有关；然而，它们也会导致组织的结构变化，比如肺大泡。在这个病例报告中，我们提出了一个年轻的，瘦弱的男孩死于自发性气胸。死后基因检测显示一种新的COL3A1突变，可能导致自发性气胸死亡的致病事件。我们建议在SP的背景下实施相关或致病基因的基因检测。

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

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.

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来源期刊

Forensic Science, Medicine and Pathology MEDICINE, LEGAL-PATHOLOGY

CiteScore

3.90

自引率

5.60%

发文量

114

审稿时长

6-12 weeks

期刊介绍： Forensic Science, Medicine and Pathology encompasses all aspects of modern day forensics, equally applying to children or adults, either living or the deceased. This includes forensic science, medicine, nursing, and pathology, as well as toxicology, human identification, mass disasters/mass war graves, profiling, imaging, policing, wound assessment, sexual assault, anthropology, archeology, forensic search, entomology, botany, biology, veterinary pathology, and DNA. Forensic Science, Medicine, and Pathology presents a balance of forensic research and reviews from around the world to reflect modern advances through peer-reviewed papers, short communications, meeting proceedings and case reports.