<b>Background:</b> Osteogenesis imperfecta (OI) is a clinical and genetic disorder that results in bone fragility, blue sclerae and dentineogenesis imperfecta (DGI), which is mainly caused by a mutation in the <i>COL1A1</i> or <i>COL1A2</i> genes, which encode type I procollagen. The gene discussed is COL1A2; the disease is hereditary disease.