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Review
. 2016 Mar;34(2):123-31.
doi: 10.1007/s00774-015-0667-1. Epub 2015 Jun 2.

IFITM5 mutations and osteogenesis imperfecta

Affiliations
Review

IFITM5 mutations and osteogenesis imperfecta

Nobutaka Hanagata. J Bone Miner Metab. 2016 Mar.

Abstract

Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that has been shown to be a positive regulatory factor for mineralization in vitro. However, Ifitm5 knockout mice do not exhibit serious bone abnormalities, and thus the function of IFITM5 in vivo remains unclear. Recently, a single point mutation (c.-14C>T) in the 5' untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V (OI-V). Furthermore, a single point mutation (c.119C>T) in the coding region of IFITM5 was identified in OI patients with more severe symptoms than patients with OI-V. Although IFITM5 is not directly involved in the formation of bone in vivo, the reason why IFITM5 mutations cause OI remains a major mystery. In this review, the current state of knowledge of OI pathological mechanisms due to IFITM5 mutations will be reviewed.

Keywords: Heterozygous mutation; IFITM5; Osteogenesis imperfecta type V.

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