Mutations in COL1A2 can lead to a variety of connective tissue disorders. One of the most well-known conditions associated with COL1A2 mutations is Osteogenesis Imperfecta (OI), also known as brittle bone disease. OI is characterized by fragile bones that break easily, as well as other symptoms such as blue sclerae, hearing loss, and dental abnormalities. The severity of OI can range from mild to severe, depending on the specific nature of the mutation.
