Osteogenesis imperfecta (OI) is a group of rare genetic connective tissue diseases with clinical heterogeneity and genetic heterogeneity. Till now, fifteen subtypes of OI has been identified. Autosomal dominant OI is the primary inheritance pattern, and it is caused by mutations in the COL1A1 or COL1A2 genes that encode the proa1 and proa2. Recessively inherited forms of OI are rare and are caused by mutations in many different genes, which related with post-transcriptional modification, defects of collagen's chaperons and C-propeptide cleavage enzyme, osteoblast/osteocyte differentiation and transcript factor, Ca²⁺ channel as well as Wnt signaling molecules. The pathogenic genes and mechanisms to dominant and recessive OI are useful for gene detection and individual therapy of OI patients.