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Article

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.

BMC musculoskeletal disorders - 27 Mar 2014

Lazarus Syndia, McInerney-Leo Aideen M, McKenzie Fiona A, Baynam Gareth, Broley Stephanie, Cavan Barbra V, Munns Craig F, Pruijs Johannes Egbertus Hans, Sillence David, Terhal Paulien A, Pryce Karena, Brown Matthew A, Zankl Andreas, Thomas Gethin, Duncan Emma L

Abstract excerpt

BACKGROUND: The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5' untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue. This mutation...

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Identifiers

PMID: 24674092
DOI: 10.1186/1471-2474-15-107
PMCID: PMC3986707

Genes

IFITM5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24674092-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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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.PMID 24674092Read ↗

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

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

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 MutationSemantic proximity Read ↗

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

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

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