IFITM5 mutations and osteogenesis imperfecta

@article{Hanagata2015IFITM5MA,
  title={IFITM5 mutations and osteogenesis imperfecta},
  author={Nobutaka Hanagata},
  journal={Journal of Bone and Mineral Metabolism},
  year={2015},
  volume={34},
  pages={123-131}
}
  • N. Hanagata
  • Published 2015
  • Medicine
  • Journal of Bone and Mineral Metabolism
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… Expand
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References

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Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta
TLDR
One patient with a de novo c.119C>T heterozygous mutation in IFITM5, which predicts p.Ser40Leu mutation, is described, which developed hyperplastic calluses and had calcification of the forearm interosseous membrane. Expand
Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation
TLDR
In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), the same mutation in the 5′ untranslated region (5′UTR) of the interferon‐induced transmembrane protein 5 (IFITM5) gene is identified and a detailed description of their phenotype is provided. Expand
A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium‐Derived Factor
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  • Biology, Medicine
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Osteogenesis imperfecta (OI) types V and VI are caused, respectively, by a unique dominant mutation in IFITM5, encoding BRIL, a transmembrane ifitm‐like protein most strongly expressed in theExpand
Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice
TLDR
The effect of IfITM5 deficiency on bone formation was more significant in newborns than in young and adult mice, suggesting that Ifitm5 deficiency might have a greater effect on prenatal bone development. Expand
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
TLDR
It is concluded that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V, an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. Expand
A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset
  • H. Hoyer-Kuhn, O. Semler, +5 authors C. Netzer
  • Medicine
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TLDR
The entire gene—not only the 5′‐UTR harboring the “classical” OI type V mutation—has to be analyzed to exclude a causal role of IFITM5, and this should be part of the initial diagnostic steps for genetic laboratories performing Sanger sequencing in OI patients. Expand
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
TLDR
The c.-14C > T IFITM5 mutation does not result in an RNA-null allele but is expressed in bone, particularly in the manifestation of bone fragility amongst subjects. Expand
Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
TLDR
It is demonstrated that type V OI mineralization has a gain-of-function mechanism at the osteoblast level, which likely underlies the overactive tissue mineralization seen in patients. Expand
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene
TLDR
Screening for mutations in the IFITM5 gene is suggested in most cases of OI where type 1 collagen mutations are absent, as this report reports a 5‐year‐old child with clinical features of Oi type III or severe OI type IV and absence of classical features ofOI type V with a de novo recurrent IFITm5 mutation. Expand
PHENOTYPIC VARIABILITY IN INDIVIDUALS WITH TYPE V OSTEOGENESIS IMPERFECTA WITH IDENTICAL IFITM5 MUTATIONS.
TLDR
It is confirmed that the mutation creates an aberrant IFITM5 protein containing an additional 5 amino acids at the N-terminus, further supporting the notion that OI type V is caused by a single, discrete mutation. Expand
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