A brilliant breakthrough in OI type V

Lazarus, S., Moffatt, P., Duncan, E. L. and Thomas, G. P. (2013) A brilliant breakthrough in OI type V. Osteoporosis international, 25 2: 399-405. doi:10.1007/s00198-013-2465-8

Author Lazarus, S.
Moffatt, P.
Duncan, E. L.
Thomas, G. P.
Title A brilliant breakthrough in OI type V
Journal name Osteoporosis international   Check publisher's open access policy
ISSN 0937-941X
Publication date 2013-01-01
Year available 2013
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1007/s00198-013-2465-8
Volume 25
Issue 2
Start page 399
End page 405
Total pages 7
Place of publication London, United Kingdom
Publisher Springer U K
Language eng
Formatted abstract
Interferon-induced transmembrane protein 5 or bone-restricted i fitm-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
Keyword Hyperplastic callus
Interosseous membrane calcification
Next generation sequencing
Osteogenesis imperfecta
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: UQ Centre for Clinical Research Publications
Official 2014 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 4 times in Thomson Reuters Web of Science Article | Citations
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Created: Wed, 11 Dec 2013, 20:54:51 EST by Roheen Gill on behalf of UQ Centre for Clinical Research