What is the inheritance pattern of osteogenesis imperfecta?

Osteogenesis imperfecta (OI), also known as "brittle bone disease," primarily follows an autosomal dominant inheritance pattern. This means that only one mutated copy of the gene from an affected parent can lead to the condition in the offspring, making the trait appear in both males and females equally, and it can be passed from an affected parent to their children.

The genetic basis of OI is linked to mutations in the collagen genes, particularly COL1A1 and COL1A2, which are essential for the proper formation of collagen, a crucial component of bone structure. Due to autosomal dominant inheritance, if an individual has the mutation (even in one copy of the gene), they will typically exhibit symptoms of the condition, which include frequent fractures and skeletal deformities.

In contrast, the other inheritance patterns mentioned do not apply to OI. Autosomal recessive inheritance would require two copies of the mutated gene for the condition to manifest, which is not the case for OI. X-linked dominant would imply that genes on the X chromosome are involved, leading to different expression patterns between males and females, which again is not characteristic of OI. Mitochondrial inheritance, which is passed down exclusively through the maternal line and