A brilliant breakthrough in OI type V

TY - JOUR

T1 - A brilliant breakthrough in OI type V

AU - Lazarus, S.

AU - Moffatt, P.

AU - Duncan, E. L.

AU - Thomas, G. P.

N1 - Copyright: Copyright 2014 Elsevier B.V., All rights reserved.

PY - 2014/2

Y1 - 2014/2

N2 - 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.

AB - 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.

KW - Bril

KW - Hyperplastic callus

KW - IFITM

KW - Interosseous membrane calcification

KW - Next generation sequencing

KW - Osteogenesis imperfecta

UR - http://www.scopus.com/inward/record.url?scp=84899078730&partnerID=8YFLogxK

U2 - 10.1007/s00198-013-2465-8

DO - 10.1007/s00198-013-2465-8

M3 - Review article

C2 - 24030286

AN - SCOPUS:84899078730

SN - 0937-941X

VL - 25

SP - 399

EP - 405

JO - Osteoporosis International

JF - Osteoporosis International

IS - 2

ER -