However, when a child inherits the recessive gene from both parents, the individual will develop brittle bone disease. These mutations can occur spontaneously in an egg or sperm cell before conception, meaning a child can be born with the disease even if neither parent has the condition.
Understanding Genetic Risk for Future Children of OI Parents
Understanding how is brittle bone disease inherited begins with recognizing that the condition, formally known as osteogenesis imperfecta (OI), is fundamentally a genetic disorder. 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.
Looking Ahead: Genetic Testing and Research. Variability in Expression It is important to note that inheriting a mutation does not guarantee that the symptoms will be identical to those of a parent.
Calculating the Genetic Risk for Future Children
The most common culprit is the COL1A1 gene, which provides instructions for making type 1 procollagen, while the COL1A2 gene is responsible for the production of a similar component. Family History and Probability If one parent has the condition, each child has a 1 in 2 chance of inheriting the mutation.
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