关键词: 成骨不全症, C0L1A2 基因, 新突变

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