成骨不全COL1A1基因无义突变一例报告  

Nonsense mutation of COL1A1 gene in osteogenesis imperfecta:a case report

作　　者：夏珊 杨艳 曹旭[2] 朱颖[2] 杨毅[2] 张磊[2] 周卉[2] XIA Shan;YANG Yan;CAO Xu;ZHU Ying;YANG Yi;ZHANG Lei;ZHOU Hui(Zunyi Medical University,Zunyi 563000,Guizhou,China;Department of Endocrinology,Sichuan Academy of Medical Sciences&Sichuan Provincial People's Hospital,Chengdu 610072,China)

机构地区：[1]遵义医科大学临床医学院,贵州遵义563000 [2]四川省医学科学院、四川省人民医院内分泌科,成都610072

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2022年第5期523-528,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：四川省科技计划项目(2020YFS0422)。

摘　　要：成骨不全症是一种遗传性疾病,主要特征为骨量低、骨脆性增加以及损害其他系统表现出骨折、骨骼畸形、身材矮小、蓝巩膜、牙本质发育不全等。本文报告1例成骨不全症患者的病史;对其外周血基因采用全序列外显子基因工程检测信息技术,检测相关致病基因,结果在患者COL1A1基因17号染色体(Chr17:50191826)编码区发现杂合变异:NM_000088.4:exon31:c.2089C>T(p.Arg697^(*))。Osteogenesis imperfecta is a genetic disorder characterized by low bone mass,increased bone fragility,and skeletal deformities,short stature,blue sclera,and dentin hypoplasia.In this paper,we reported the medical history of a patient with osteogenesis imperfecta and tested genomic DNA for relevant causative genes using a full-sequence exonic genetic engineering test information technology.The results revealed a heterozygous variant in the coding region of chromosome 17(Chr17:50191826)of the patient's COL1A1 gene:NM_000088.4:exon31:c.2089C>T(p.Arg697^(*)).

关 键 词：成骨不全症 COL1A1基因 致病性基因 

分 类 号：R681[医药卫生—骨科学]