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Article

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2013

Grover Monica, Campeau Philippe M, Lietman Caressa Dee, Lu James T, Gibbs Richard A, Schlesinger Alan E, Lee Brendan H

Abstract excerpt

Osteogenesis imperfecta (OI) is typically caused by mutations in type 1 collagen genes, but in recent years new recessive and dominant forms caused by mutations in a plethora of different genes have been characterized. OI type V is a dominant form caused by the recurrent (c.-14C > T) mutation in the 5'UTR of the IFITM5 gene. The mutation adds five residues to the N-terminus of the IFITM5, but the pathophysiology...

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Identifiers

PMID: 23674381
DOI: 10.1002/jbmr.1983
PMCID: PMC3800501

Genes

IFITM5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.PMID 23674381Read ↗

A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.Semantic proximity Read ↗

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Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.Semantic proximity Read ↗

[Genetic mutation and clinical features of osteogenesis imperfecta type V].Semantic proximity Read ↗

Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta.Semantic proximity Read ↗

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.Semantic proximity Read ↗

A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.Semantic proximity Read ↗

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A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.Semantic proximity Read ↗

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