Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta

• Published in: American journal of medical genetics. Part A Vol. 173; no. 7; pp. 1907 - 1912
• Main Authors: Ackermann, Amanda M., Levine, Michael A.
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.07.2017
• Subjects: biallelic mutations; Bone mass; Bone strength; Children; collagen; Collagen (type I); Ehlers-Danlos syndrome; Fractures; Frameshift mutation; Heterozygotes; Long bone; Missense mutation; Mutation; Osteogenesis; Osteogenesis imperfecta; Procollagen; Siblings; collagen; Ehlers-Danlos syndrome; osteogenesis imperfecta; biallelic mutations

Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1 mutations can also cause...