COL1A1 and osteogenesis imperfecta: Most OI cases are caused by autosomal dominant mutations in the genes encoding type I collagen, COL1A1 and COL1A2. Delineation of novel gene defects causing dominant and recessive forms of OI has led to the understanding that the bone pathology results not only from abnormalities in type I collagen quantity and primary structure, but also from defects in post-translational modification, folding, intracellular transport and extracellular matrix incorporation.