How to cite this article: Rohrbach M, Giunta C. 2012. Recessive osteogenesis imperfecta: Clinical, radiological and molecular findings. Am J Med Genet Part C.
Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings†
Article first published online: 12 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: New Topics in the Skeletal Dysplasias
Volume 160C, Issue 3, pages 175–189, 15 August 2012
How to Cite
Rohrbach, M. and Giunta, C. (2012), Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings. Am. J. Med. Genet., 160C: 175–189. doi: 10.1002/ajmg.c.31334
- Issue published online: 19 JUL 2012
- Article first published online: 12 JUL 2012
- osteogenesis imperfecta;
- brittle bone disease;
- bone mass
Osteogenesis imperfecta (OI) or “brittle bone disease” is currently best described as a group of hereditary connective tissue disorders related to primary defects in type I procollagen, and to alterations in type I procollagen biosynthesis, both associated with osteoporosis and increased susceptibility to bone fractures. Initially, the autosomal dominant forms of OI, caused by mutations in either COL1A1 or COL1A2, were described. However, for decades, the molecular defect of a small percentage of patients clinically diagnosed with OI has remained elusive. It has been in the last 6 years that the genetic causes of several forms of OI with autosomal recessive inheritance have been characterized. These comprise defects of collagen chaperones, and proteins involved in type I procollagen assembly, processing and maturation, as well as proteins involved in the formation and homeostasis of bone tissue. This article reviews the recently characterized forms of recessive OI, focusing in particular on their clinical and molecular findings, and on their radiological characterisation. Clinical management and treatment of OI in general will be discussed, too. © 2012 Wiley Periodicals, Inc.