Osteoporosis International

, Volume 25, Issue 2, pp 399–405

A brilliant breakthrough in OI type V


DOI: 10.1007/s00198-013-2465-8

Cite this article as:
Lazarus, S., Moffatt, P., Duncan, E.L. et al. Osteoporos Int (2014) 25: 399. doi:10.1007/s00198-013-2465-8


Interferon-induced transmembrane protein 5 or bone-restricted ifitm-like gene (Bril) was first identified as a bone gene in 2008, although no in vivo role was identified at that time. A role in human bone has now been demonstrated with a number of recent studies identifying a single point mutation in Bril as the causative mutation in osteogenesis imperfecta type V (OI type V). Such a discovery suggests a key role for Bril in skeletal regulation, and the completely novel nature of the gene raises the possibility of a new regulatory pathway in bone. Furthermore, the phenotype of OI type V has unique and quite divergent features compared with other forms of OI involving defects in collagen biology. Currently it appears that the underlying genetic defect in OI type V may be unrelated to collagen regulation, which also raises interesting questions about the classification of this form of OI. This review will discuss current knowledge of OI type V, the function of Bril, and the implications of this recent discovery.


BrilHyperplastic callusIFITMInterosseous membrane calcificationNext generation sequencingOsteogenesis imperfecta

Copyright information

© International Osteoporosis Foundation and National Osteoporosis Foundation 2013

Authors and Affiliations

  1. 1.University of Queensland Diamantina InstituteWoolloongabbaAustralia
  2. 2.Department of Endocrinology, Royal Brisbane and Women’s HospitalHerstonAustralia
  3. 3.University of Queensland Centre for Clinical ResearchHerstonAustralia
  4. 4.Shriners Hospital for ChildrenMontrealCanada