PDF(Pubmed)
Abstract：
BACKGROUND: Primary spontaneous pneumothorax (PSP) is a manifestation of Vascular Ehlers-Danlos syndrome (vEDS) caused by heterozygous mutations in the COL3A1 gene. vEDS is a rare inherited disorder with an prevalence of one in 150,000. It can causes PSP and severe fragility of connective tissues with arterial but it remains poorly defined on clinical grounds and diagnose. Through this report, we hoped to help clinicians further understand the characteristics of vEDS.
METHODS: A 22-year-old man presented with recurrent pneumothorax, hemoptysis, and chest pain. Physical examination revealed remarkable hypermobility of the small joints and translucent skin with visible veins. Chest computed tomography (CT) showed pneumothorax and multiple pulmonary cavities.
RESULTS: Genomic deoxyribonucleic acid (DNA) was extracted from patients. Heterozygosity was observed in all 3 novel variants. The main variant is COL3A1, c.3256-43T > G(NM_000090.3), which represents a missense mutation in collagen type III alpha 1 that can lead to vEDS. The other 2 mutations were FLNB c.4814G > A(NM_001457.3) and TSC2 c.3145G > A (NM_000548.3). These variants were validated by Sanger sequencing of their parents. COL3A1was not detected in either of the parent strains. FLNB and TSC2 were detected in his mother.
METHODS: Vascular Ehlers-Danlos syndrome.
CONCLUSIONS: Both COL3A1 and TSC2 gene mutations can cause PSP; however, to the best of our knowledge, there are no reports on these 2 gene mutations in 1 patient at the same time.
METHODS: A 22-year-old man presented with recurrent pneumothorax, hemoptysis, and chest pain. Physical examination revealed remarkable hypermobility of the small joints and translucent skin with visible veins. Chest computed tomography (CT) showed pneumothorax and multiple pulmonary cavities.
RESULTS: Genomic deoxyribonucleic acid (DNA) was extracted from patients. Heterozygosity was observed in all 3 novel variants. The main variant is COL3A1, c.3256-43T > G(NM_000090.3), which represents a missense mutation in collagen type III alpha 1 that can lead to vEDS. The other 2 mutations were FLNB c.4814G > A(NM_001457.3) and TSC2 c.3145G > A (NM_000548.3). These variants were validated by Sanger sequencing of their parents. COL3A1was not detected in either of the parent strains. FLNB and TSC2 were detected in his mother.
METHODS: Vascular Ehlers-Danlos syndrome.
CONCLUSIONS: Both COL3A1 and TSC2 gene mutations can cause PSP; however, to the best of our knowledge, there are no reports on these 2 gene mutations in 1 patient at the same time.
摘要：
背景：原发性自发性气胸（PSP）是由COL3A1基因杂合突变引起的血管Ehlers-Danlos综合征（vEDS）的表现。vEDS是一种罕见的遗传性疾病，患病率为150,000。它可以导致PSP和动脉结缔组织的严重脆性，但在临床和诊断上仍然不明确。通过这份报告,我们希望帮助临床医生进一步了解vEDS的特点。
方法：一名22岁男子出现复发性气胸，咯血,和胸痛。体格检查显示，小关节和半透明皮肤的明显活动过度，可见静脉。胸部计算机断层扫描（CT）显示气胸和多个肺腔。
结果：从患者体内提取基因组脱氧核糖核酸（DNA）。在所有3个新变体中观察到杂合性。主要变体是COL3A1，c.3256-43T>G（NM_000090.3），这代表了III型胶原蛋白α1的错义突变，可导致vEDS。其他2个突变为FLNBc.4814G>A(NM_001457.3)和TSC2c.3145G>A(NM_000548.3)。这些变体通过其亲本的Sanger测序来验证。在任一亲本菌株中均未检测到COL3A1。在他的母亲中检测到FLNB和TSC2。
方法：血管Ehlers-Danlos综合征。
结论：COL3A1和TSC2基因突变均可引起PSP；据我们所知,1例患者同时发生这2种基因突变尚无报道。
方法：一名22岁男子出现复发性气胸，咯血,和胸痛。体格检查显示，小关节和半透明皮肤的明显活动过度，可见静脉。胸部计算机断层扫描（CT）显示气胸和多个肺腔。
结果：从患者体内提取基因组脱氧核糖核酸（DNA）。在所有3个新变体中观察到杂合性。主要变体是COL3A1，c.3256-43T>G（NM_000090.3），这代表了III型胶原蛋白α1的错义突变，可导致vEDS。其他2个突变为FLNBc.4814G>A(NM_001457.3)和TSC2c.3145G>A(NM_000548.3)。这些变体通过其亲本的Sanger测序来验证。在任一亲本菌株中均未检测到COL3A1。在他的母亲中检测到FLNB和TSC2。
方法：血管Ehlers-Danlos综合征。
结论：COL3A1和TSC2基因突变均可引起PSP；据我们所知,1例患者同时发生这2种基因突变尚无报道。
