What Is Osteogenesis Imperfecta?
Reviewed: Dr. Mera
1. Genetic Cause
Congenital gene mutations coming from one or both parents are usually responsible for OI. The defect is in the gene responsible for collagen synthesis, a protein used in bone creation. The inherited disorder results in soft bones that break easily and are often deformed. Very short bones and other related structural abnormalities may also occur.
If one parent has the gene defect, a child born to that parent has a 50% chance of being born with OI. It is even possible for the genetic defect to occur as a new mutation when neither parent carries the abnormality, but this is very rare.
