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| 成骨不全合并脑动脉粥样硬化-家系报告 |
| Osteogenesis imperfecta with cerebral atherosclerosis: A family report |
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| DOI：10.3969/j.issn.1006.7108.2022.03.022 |
| 中文关键词: 成骨不全 COL1A2基因 动脉粥样硬化 |
| 英文关键词:osteogenesis imperfecta COL1A2 gene atherosclerosis |
| 基金项目:广州市科技计划项目（201604020090） |
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| 中文摘要: |
| 目的 分析1例IV型成骨不全（osteogenesis imperfecta，OI）且伴有全身多处动脉粥样硬化家系的临床表型并明确其致病基因，文献复习成骨不全症和动脉粥样硬化的关系。方法 收集先证者的临床资料，对患者的血标本进行全外显子组测序，并对患者的几个患病家属和健康家属的唾液标本进行sanger验证。结果 先证者因发作晕厥，体检发现驼背和O型腿，既往有双腿反复脆性骨折的病史，颈胸腰椎正侧位X片提示有侧弯和前凸畸形，骨密度检测提示骨量减少，因其亲属也有易骨折的病史，呈常染色体显性遗传模式（AD），考虑可能为“IV型成骨不全症”。影像学检查提示全身多处血管动脉粥样硬化，右冠状动脉起始部稍细小。经全外显子组测序，在与患者临床表型相关的COL1A2基因（AD）检出了致病的杂合变异c.3159+2T＞A，家系验证呈家系共分离。携带该致病基因的家族成员的骨骼病情严重程度存在明显轻重差异。经文献复习，成骨不全症通过多种途径因素和动脉粥样硬化有一定的联系。结论 本家系为COL1A2基因杂合变异（c.3159+2T＞A）导致的成骨不全症，这是新报告的位点。成骨不全症与早发动脉粥样硬化有一定的关系，更要积极预防动脉粥样硬化。另外，颈椎骨骼异常容易导致椎基底动脉供血不足。 |
| 英文摘要: |
| Objective To study the clinical characteristics and genetic phenotypes of a patient with osteogenesis imperfecta IV caused by a pathogenic mutation of COL1A2 gene, and to discuss the relationship between osteogenesis imperfecta and atherosclerosis in the literature review. Methods Clinical data of the patient was collected, the blood sample of the patient was tested by whole exome sequencing, and the saliva samples of several sick and healthy family members of the patient were tested by Sanger sequencing. Results The patient was admitted to our hospital mainly due to syncope, who had hunchback and O-type legs. He and some of his relatives had a history of repeated brittle fractures, which was considered as “osteogenesis imperfecta”. And he was also diagnosed with multiple atherosclerosis. Besides, a pathogenic heterozygous mutation, c.3159+2T >A was detected in COL1A2 gene associated with OI, and it was a segregating mutation in the family. There was significant difference in the severity of bone disease among the family members. And we found that OI was associated with atherosclerosisto some extent after literature review. Conclusion A c.3159+2T>A mutation in COL1A2 gene was detected by whole exome sequencing, which resulted in OI. We also found that OI may have relationship with premature atherosclerosis, and the abnormal bones of the cervical spine may lead to vertebrobasilar ischemia. |
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