Dominant Characteristics of Osteogenesis Imperfecta

Abstract

Osteogenesis imperfecta (OI) has been characterized as both an autosomal dominant and recessive genetic disease. OI is caused by abnormalities in collagen I fibers. In the dominant form of the disease, two genes COL1A1 or COL1A2 can be mutated to form the faulty collagen I fibers. Individuals with these mutations generally experience mild forms of OI. 90% of patients who exhibit the OI phenotype have the dominant form of the disease.