In Osteogenesis imperfecta, which genes are most commonly mutated?

Osteogenesis imperfecta (OI), commonly known as "brittle bone disease," is primarily caused by mutations in the genes that code for type I collagen, which is crucial for bone strength and integrity. The most frequently mutated genes in OI are COL1A1 and COL1A2.

Mutations in these genes disrupt the production of type I collagen, leading to the characteristic symptoms of OI, such as fragile bones that fracture easily and other skeletal abnormalities. Type I collagen is a major structural protein in bones, providing tensile strength, and any defects in its structure or synthesis can significantly compromise bone density and structural integrity.

The other gene options mentioned are associated with different connective tissue disorders or types of collagen, but they are not primarily involved in the pathology of osteogenesis imperfecta. This specificity helps clarify why COL1A1 and COL1A2 mutations are the most relevant and significant in the context of OI. Understanding which genes are involved can also aid in diagnosing and managing the condition effectively.