Causes & Risk Factors Of Osteopetrosis

X-Linked Recessive Inheritance

The X-linked recessive inheritance type of osteopetrosis is caused by a mutation of the IKBKG gene, which plays a significant role in controlling the body's immune responses as well as the prevention of apoptosis (self-destruction). This form of the disease usually presents itself at birth.

The X-linked recessive inheritance type of osteopetrosis is also known as OL-EDA-ID. It is caused by a mutation in an X-linked gene, which means the mutated gene is inherited from one or both parents. In men, they only have one X-chromosome, so if the gene is mutated, there is no back up to replace it. This form of the disease is less common in women since they have two X-chromosomes. If one of the genes is mutated, they would still have a good one that isn't mutated, but they would be carriers and can pass the mutated gene on to their children. The chance a baby will inherit the disease largely depends on the gender of the child and which parent, if any, has the mutation.

Continue to learn more about the risk factors and causes of osteopetrosis.