Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1

Journal of Bone and Mineral Research, 03/26/2013

COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. The skeletal clinical characteristics resulting from such mutations have not been characterized in detail. In this study the authors assessed 86 patients with COL1A1 haploinsufficiency mutations, of whom 70 were aged 21 years or less. Systematic follow up of growing patients with COL1A1 haploinsufficiency mutations including radiographic screening for vertebral compression fractures and scoliosis is warranted.

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