Phenotypic variability of osteogenesis imperfecta type v caused by an IFITM5 mutation

Jay Shapiro, Caressa Lietman, Monica Grover, James T. Lu, Sandesh C S Nagamani, Brian C. Dawson, Dustin M. Baldridge, Matthew N. Bainbridge, Dan H. Cohn, Maria Blazo, Timothy T. Roberts, Feng Shu Brennen, Yimei Wu, Richard A. Gibbs, Pamela Melvin, Philippe M. Campeau, Brendan H. Lee

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1523-1530
Number of pages8
JournalJournal of Bone and Mineral Research
Volume28
Issue number7
DOIs
StatePublished - Jul 2013

Fingerprint

Osteogenesis Imperfecta
Interferons
Mutation
Bony Callus
Proteins
Mixed Conductive-Sensorineural Hearing Loss
Unilateral Hearing Loss
Exome
Phenotype
Membranes
Initiator Codon
5' Untranslated Regions
Forearm
Bone Density
Bone and Bones
Type V Osteogenesis Imperfecta

Keywords

  • HYPERPLASTIC CALLUS
  • IFITM5
  • OSTEOGENESIS IMPERFECTA
  • UNTRANSLATED REGION

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Shapiro, J., Lietman, C., Grover, M., Lu, J. T., Nagamani, S. C. S., Dawson, B. C., ... Lee, B. H. (2013). Phenotypic variability of osteogenesis imperfecta type v caused by an IFITM5 mutation. Journal of Bone and Mineral Research, 28(7), 1523-1530. https://doi.org/10.1002/jbmr.1891

Phenotypic variability of osteogenesis imperfecta type v caused by an IFITM5 mutation. / Shapiro, Jay; Lietman, Caressa; Grover, Monica; Lu, James T.; Nagamani, Sandesh C S; Dawson, Brian C.; Baldridge, Dustin M.; Bainbridge, Matthew N.; Cohn, Dan H.; Blazo, Maria; Roberts, Timothy T.; Brennen, Feng Shu; Wu, Yimei; Gibbs, Richard A.; Melvin, Pamela; Campeau, Philippe M.; Lee, Brendan H.

In: Journal of Bone and Mineral Research, Vol. 28, No. 7, 07.2013, p. 1523-1530.

Research output: Contribution to journalArticle

Shapiro, J, Lietman, C, Grover, M, Lu, JT, Nagamani, SCS, Dawson, BC, Baldridge, DM, Bainbridge, MN, Cohn, DH, Blazo, M, Roberts, TT, Brennen, FS, Wu, Y, Gibbs, RA, Melvin, P, Campeau, PM & Lee, BH 2013, 'Phenotypic variability of osteogenesis imperfecta type v caused by an IFITM5 mutation', Journal of Bone and Mineral Research, vol. 28, no. 7, pp. 1523-1530. https://doi.org/10.1002/jbmr.1891
Shapiro, Jay ; Lietman, Caressa ; Grover, Monica ; Lu, James T. ; Nagamani, Sandesh C S ; Dawson, Brian C. ; Baldridge, Dustin M. ; Bainbridge, Matthew N. ; Cohn, Dan H. ; Blazo, Maria ; Roberts, Timothy T. ; Brennen, Feng Shu ; Wu, Yimei ; Gibbs, Richard A. ; Melvin, Pamela ; Campeau, Philippe M. ; Lee, Brendan H. / Phenotypic variability of osteogenesis imperfecta type v caused by an IFITM5 mutation. In: Journal of Bone and Mineral Research. 2013 ; Vol. 28, No. 7. pp. 1523-1530.
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