ArticleBMC musculoskeletal disorders2014
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.
Article in BMC musculoskeletal disorders, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2017Trial
- Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.European journal of human genetics : EJHG · 2024Article
- The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.The Journal of clinical investigation · 2024Article
- Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature ReviewBiomedicines · 2022Article
- The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.International journal of molecular sciences · 2022Article
- Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).Genes · 2022Article
- IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.Human genomics · 2019Article
- Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review.Frontiers in endocrinology · 2019Article
- IFITM5 mutations and osteogenesis imperfecta.Journal of bone and mineral metabolism · 2016Review
- Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.Molecular syndromology · 2015Article
- A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2015Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 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 creates an alternative start codon and has been shown in a eukaryotic cell line to result in a longer variant of IFITM5, but its expression has not previously been demonstrated in bone from a patient with OI type V.
methodsSanger sequencing of the IFITM5 5' UTR was performed in our cohort of subjects with a clinical diagnosis of OI type V. Clinical data was collated from referring clinicians. RNA was extracted from a bone sample from one patient and Sanger sequenced to determine expression of wild-type and mutant IFITM5.
resultsAll nine subjects with OI type V were heterozygous for the c.-14C > T IFITM5 mutation. Clinically, there was heterogeneity in phenotype, particularly in the manifestation of bone fragility amongst subjects. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone.
conclusionsThe c.-14C > T IFITM5 mutation does not result in an RNA-null allele but is expressed in bone. Individuals with identical mutations in IFITM5 have highly variable phenotypic expression, even within the same family.
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