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

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^(*)).