Review

Osteoporosis International

, Volume 25, Issue 2, pp 399-405

First online:

A brilliant breakthrough in OI type V

  • S. LazarusAffiliated withUniversity of Queensland Diamantina InstituteDepartment of Endocrinology, Royal Brisbane and Women’s HospitalUniversity of Queensland Centre for Clinical Research
  • , P. MoffattAffiliated withShriners Hospital for Children
  • , E. L. DuncanAffiliated withUniversity of Queensland Diamantina InstituteDepartment of Endocrinology, Royal Brisbane and Women’s HospitalUniversity of Queensland Centre for Clinical Research Email author 
  • , G. P. ThomasAffiliated withUniversity of Queensland Diamantina Institute Email author 

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Abstract

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.

Keywords

Bril Hyperplastic callus IFITM Interosseous membrane calcification Next generation sequencing Osteogenesis imperfecta