EP272: Familial pathogenic variant causing osteogenesis imperfecta identified in the Puerto Rican population

Abstract

Osteogenesis imperfecta (OI) is the most common hereditary etiology for bone fragility. It is characterized by fractures with minimal trauma, hearing loss, and variable dentinogenesis imperfecta. It represents a spectrum that ranges from perinatal lethality and individuals with severe skeletal deformities to asymptomatic individuals with a mild predisposition to fractures, normal dentition, stature, and life span. The diagnosis is established through molecular genetic testing by identifying a heterozygous pathogenic or likely pathogenic variant in the COL1A1 or COL1A2 genes.