Abstract: Objective To analyze and summarize the clinical phenotype and gene mutation characteristics of a de novo COL1A2 gene mutation in a newborn with osteogenesis imperfecta (OI),in order to improve the diagnosis and understanding of OI. Methods Clinical data and test results were reviewed from a newborn diagnosed with OI in the department of Pediatrics of the Third Hospital of Xiamen Affiliated Hospital in August 2017. In addition, the newborn and her parents′ peripheral blood genomic DNA were extracted, and the genes related to OI were analyzed and reviewed by using the whole-sequence exon gene detection technology. Results The patient′s COL1A1 gene was not found with pathogenicity variation, while the COL1A2 gene was detected with a new hybrid missense mutation (c.G2882A, p.G961D). The mutation had not been reported in PubMed and HGMD databases, which was inherited from her mother. Conclusions According to the clinical information of the children, the genetic model of disease and comprehensive evaluation of Exomiser software, it is predicted that the new mutation of COL1A2 gene (c.G2882A, p.G961D) is the cause of OI in this case.

Key words: osteogenesis imperfecta, COL1A2 gene, new mutation

摘要： 目的 对COL1A2新发突变致1例新生儿成骨不全症的临床表型及基因变异特征进行分析,提高对成骨不全症(OI)的诊断和认识。方法 回顾福建中医药大学附属厦门市第三医院儿科2017年8月确诊的1例新生儿成骨不全症临床资料及辅助检查,并提取患儿及其父母外周血DNA,采用全序列外显子基因检测技术检测成骨不全症相关基因,对突变基因进一步分析并复习相关文献。结果 患儿的COL1A1基因未检出致病性变异,而COL1A2 基因检测发现一杂合错义突变(c.G2882A,p.G961D),PubMed及HGMD数据库均未见报道,该错义突变来自母亲,而其父正常。结论 依据本例患儿临床信息、疾病遗传模式和Exomiser软件综合评价,预测COL1A2 基因新发突变(c.G2882A,p.G961D)是成骨不全症致病突变。

关键词: 成骨不全症, C0L1A2 基因, 新突变