关键词: COL1A1, FKBP10, 成骨不全症, 一代测序

Abstract: Objective To improve the diagnosis and recognition of osteogenesis imperfecta（OI）, the genes of three families with OI were screened and its clinical phenotype and gene mutations were analyzed. Methods Clinical data were collected and then blood samples of patients and their families were extracted, high-throughput sequencing, generation sequencing, analysis of results. Results Proband1, FKBP10, Exon6,c.1016G＞A,R339Q,Homozygous mutation, heterozygous mutation of the same locus of his parents. Proband2, COL1A1,EXON9,c.671G>A,p.G224D,heterozygous mutation, heterozygous mutation of the locus of her father, non-mutation of the locus of her mother.Proband3,COL1A1,EXON30,c.2010delT,p.P670fs,heterozygous mutation, heterozygous mutation of the same locus of his mother, non-mutation of the locus of his father. Conclusions The novel mutation of FKBP10 may lead to the onset of XI type of osteogenesis imperfecta(OI) and the new phenotype. The relationship of two loci mutation of COL1A1 and OI was confirmed further.

Key words: COL1A1, FKBP10, Osteogenesis Imperfecta, Generation sequencing