The genetic landscape of osteogenesis imperfecta: mutational mechanisms and therapeutic targets

Osteogenesis imperfecta is colloquially known as brittle bone disease because it is an inherited disease characterized by a connective tissue disorder that causes decreased bone mass, increased bone fragility and abnormalities in skeletal structure. This disease is caused by a mutation in the type I collagen genes, specifically COL1A1 and COL1A2, resulting in a variety of clinical manifestations ranging from mild to lethal. The impact on the quality of life of patients with OI can be complicated, which is why they need multidisciplinary management strategies including orthopedic care, physical therapy, pain management and surgical interventions.