PMID- 23408678
OWN - NLM
STAT- MEDLINE
DCOM- 20131104
LR  - 20220310
IS  - 1523-4681 (Electronic)
IS  - 0884-0431 (Print)
IS  - 0884-0431 (Linking)
VI  - 28
IP  - 7
DP  - 2013 Jul
TI  - Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 
      mutation.
PG  - 1523-30
LID - 10.1002/jbmr.1891 [doi]
AB  - In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 
      individuals from 12 families), we identified the same mutation in the 5' 
      untranslated region (5'UTR) of the interferon-induced transmembrane protein 5 
      (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c.-14C > T) and 
      provide a detailed description of their phenotype. This mutation leads to the 
      creation of a novel start codon adding five residues to IFITM5 and was recently 
      reported in several other OI type V families. The variability of the phenotype 
      was quite large even within families. Whereas some patients presented with the 
      typical calcification of the forearm interosseous membrane, radial head 
      dislocation and hyperplastic callus (HPC) formation following fractures, others 
      had only some of the typical OI type V findings. Thirteen had calcification of 
      interosseous membranes, 14 had radial head dislocations, 10 had HPC, 9 had long 
      bone bowing, 11 could ambulate without assistance, and 1 had mild unilateral 
      mixed hearing loss. The bone mineral density varied greatly, even within 
      families. Our study thus highlights the phenotypic variability of OI type V 
      caused by the IFITM5 mutation.
CI  - Copyright (c) 2013 American Society for Bone and Mineral Research.
FAU - Shapiro, Jay R
AU  - Shapiro JR
AD  - Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institution, 
      Johns Hopkins University, Baltimore, MD, USA.
FAU - Lietman, Caressa
AU  - Lietman C
FAU - Grover, Monica
AU  - Grover M
FAU - Lu, James T
AU  - Lu JT
FAU - Nagamani, Sandesh Cs
AU  - Nagamani SC
FAU - Dawson, Brian C
AU  - Dawson BC
FAU - Baldridge, Dustin M
AU  - Baldridge DM
FAU - Bainbridge, Matthew N
AU  - Bainbridge MN
FAU - Cohn, Dan H
AU  - Cohn DH
FAU - Blazo, Maria
AU  - Blazo M
FAU - Roberts, Timothy T
AU  - Roberts TT
FAU - Brennen, Feng-Shu
AU  - Brennen FS
FAU - Wu, Yimei
AU  - Wu Y
FAU - Gibbs, Richard A
AU  - Gibbs RA
FAU - Melvin, Pamela
AU  - Melvin P
FAU - Campeau, Philippe M
AU  - Campeau PM
FAU - Lee, Brendan H
AU  - Lee BH
LA  - eng
GR  - P01 HD22657/HD/NICHD NIH HHS/United States
GR  - CAPMC/CIHR/Canada
GR  - P01 HD022657/HD/NICHD NIH HHS/United States
GR  - U54 HG003273/HG/NHGRI NIH HHS/United States
GR  - P01 HD070394/HD/NICHD NIH HHS/United States
PT  - Clinical Trial
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Bone Miner Res
JT  - Journal of bone and mineral research : the official journal of the American 
      Society for Bone and Mineral Research
JID - 8610640
RN  - 0 (5' Untranslated Regions)
RN  - 0 (Codon, Initiator)
RN  - 0 (IFITM5 protein, human)
RN  - 0 (Membrane Proteins)
RN  - Osteogenesis Imperfecta, Type V
SB  - IM
CIN - J Bone Miner Res. 2013 Jul;28(7):1519-22. PMID: 23696068
MH  - 5' Untranslated Regions/*genetics
MH  - Adult
MH  - *Bone Density
MH  - Child
MH  - Child, Preschool
MH  - Codon, Initiator/*genetics
MH  - Family
MH  - Female
MH  - Humans
MH  - Infant
MH  - Male
MH  - *Membrane Proteins
MH  - Middle Aged
MH  - *Osteogenesis Imperfecta/diagnostic imaging/genetics/physiopathology
MH  - *Point Mutation
MH  - Radiography
MH  - Retrospective Studies
PMC - PMC3688672
MID - NIHMS444878
EDAT- 2013/02/15 06:00
MHDA- 2013/11/05 06:00
CRDT- 2013/02/15 06:00
PHST- 2012/08/21 00:00 [received]
PHST- 2013/01/21 00:00 [revised]
PHST- 2013/01/28 00:00 [accepted]
PHST- 2013/02/15 06:00 [entrez]
PHST- 2013/02/15 06:00 [pubmed]
PHST- 2013/11/05 06:00 [medline]
AID - 10.1002/jbmr.1891 [doi]
PST - ppublish
SO  - J Bone Miner Res. 2013 Jul;28(7):1523-30. doi: 10.1002/jbmr.1891.