Osteogenesis Imperfecta ASBMR

Description: Osteogenesis Imperfecta is caused by a mutation in the gene for collagen. The disease is inherited as an autosomal dominant trait, which means persons with one mutation will have the disease and each of their children will have a 50% chance of getting the disease. In about one of five cases the patient's parents did not have the disease, these represent new mutations. The severity ranges from mild disease that can be mistaken for osteoporosis to very severe disease that is fatal to infants.