Bone in osteogenesis imperfecta: features and therapy

Osteogenesis imperfecta (OI) is a heterogeneous group of inherited bone dysplasia, characterized by low bone mass and bone fragility with possible development of fractures. OI has been known as a predominantly inherited disease caused by mutations in either of the genes encoding type I collagen ( COL1A1 and COL1A2 ). Further studies in recent years have identified new mutations in collagen-related genes, leading to the identification and classification of different types of OI. Therapeutic approaches have concentrated on the use of bisphosphonates and/or monoclonal antibodies as elective therapy, but different trials are ongoing using cell and gene therapies, and these offer new options for OI patients.