Common Name(s):
Brittle Bone Disease
Alternative Names & Classifications:
Osteogenesis Imperfecta (CLINICAL)
Description
Osteogenesis imperfecta is most often caused by autosomal dominant mutations in the COL1A1 or COL1A2 genes, which are responsible for producing type I collagen. The body either does not produce enough of this collagen or produces poor-quality collagen, removing the structural scaffolding necessary for strong bones. The severity varies drastically, from mild forms with few fractures to lethal forms in utero.