Males and females are equally likely to inherit the dominant gene and be affected. The severity of the disease can vary significantly, even within the same family, due to the specific nature of the genetic mutation and other modifying factors.
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A parent with the dominant form of osteogenesis imperfecta has a 50% chance with each pregnancy of passing the mutation on to their child, regardless of the child's sex. The expression of osteogenesis imperfecta is highly variable, influenced by the specific gene involved, the exact location of the mutation, and other unknown genetic and environmental factors.
In this scenario, a person inherits a single copy of the altered gene from just one parent to develop the disorder. Because the defective gene dominates the healthy one, the physical traits of the disease will likely be expressed.
Understanding Brittle Bone Genetic Testing Options
When these genes are altered, the body produces either insufficient collagen or collagen that is of poor quality, resulting in bones that are prone to breaking easily. The fragile bones and susceptibility to fractures are not the result of lifestyle or environmental factors during a person's life, but rather stem from a flaw in the blueprint of the body passed down from parents.
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