What gene mutations are linked to Osteogenesis Imperfecta?

Osteogenesis Imperfecta (OI), also known as "brittle bone disease," is primarily associated with mutations in the COL1A1 and COL1A2 genes. These genes encode the type I collagen that makes up a significant portion of bone structure and integrity. Mutations in these genes can lead to reduced production or abnormal structure of collagen, which in turn weakens bone and increases susceptibility to fractures.

COL1A1 mutations are linked to varying severity forms of OI, while mutations in COL1A2 can similarly affect collagen formation and bone quality. The type of mutations in these genes can contribute to different phenotypes of OI, from mild cases to severe, life-threatening forms.

In contrast, the other gene mutations listed, while associated with different skeletal disorders or conditions, do not directly relate to Osteogenesis Imperfecta. SLC26A2 is primarily involved in skeletal dysplasias, RUNX2 is associated with cleidocranial dysostosis, and FGFR3 mutations are primarily linked to achondroplasia and other forms of skeletal dysplasia. Thus, the specificity of COL1A1 and COL1A2 mutations to osteogenesis imperfecta sets them apart as the correct answer.