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Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2014

Hoyer-Kuhn Heike, Semler Oliver, Garbes Lutz, Zimmermann Katharina, Becker Jutta, Wollnik Bernd, Schoenau Eckhard, Netzer Christian

Abstract excerpt

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by a wide range of skeletal symptoms. Most patients have dominantly inherited or de novo mutations in COL1A1 or COL1A2. Up to 5% of patients have OI type V, characterized by hyperplastic callus formation after fractures, calcification of the interosseous membrane of the forearm, and a mesh-like lamellation pattern observed in...

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Source

Identifiers

PMID: 24293101
DOI: 10.1002/jbmr.2156

Genes

IFITM5

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.PMID 24293101Read ↗

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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 ↗

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