A <i>De novo</i> Mutation in the <i>COL1A1</i> Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature

Abstract

Introduction Osteogenesis imperfecta (OI) is the most common monogenic inherited skeletal dysplasia disorder. Mutations in the COL1A1/COL1A2 gene cause ∼85 to 90% of OI. Studies of cases have demonstrated that missense mutations are the primary cause of OI, with poor prognosis.

Keywords

• osteogenesis imperfecta
• COL1A1 gene
• whole-exome sequencing
• prenatal diagnosis