ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2013
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 28 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
- The pathogenesis and intersecting mechanisms of monogenic bone mass disorders.Nature reviews. Endocrinology · 2026Review
- Article
- Mesenchymal stem cells in the treatment of osteogenesis imperfecta.Cell regeneration (London, England) · 2023Review
- Article
- Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).Genes · 2022Article
- Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation.Scientific reports · 2020Article
- A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.Molecular genetics & genomic medicine · 2020Article
- 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
- Review
- Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2016Review
- IFITM5 mutations and osteogenesis imperfecta.Journal of bone and mineral metabolism · 2016Review
- Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.Molecular syndromology · 2015Article
- Recent developments in osteogenesis imperfecta.F1000Research · 2015Review
- 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 · 2014Article
- IFITMs restrict the replication of multiple pathogenic viruses.Journal of molecular biology · 2013Review
- PHENOTYPIC VARIABILITY IN INDIVIDUALS WITH TYPE V OSTEOGENESIS IMPERFECTA WITH IDENTICAL IFITM5 MUTATIONS.The Journal of rare disorders · 2013Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Osteogenesis imperfecta (OI) is typically caused by mutations in type 1 collagen genes, but in recent years new recessive and dominant forms caused by mutations in a plethora of different genes have been characterized. OI type V is a dominant form caused by the recurrent (c.-14C > T) mutation in the 5'UTR of the IFITM5 gene. The mutation adds five residues to the N-terminus of the IFITM5, but the pathophysiology of the disease remains to be elucidated. Typical clinical features present in the majority of OI type V patients include interosseous membrane calcification between the radius and ulna and between the tibia and fibula, radial head dislocation, and significant hyperplastic callus formation at the site of fractures. We report a 5-year-old child with clinical features of OI type III or severe OI type IV (characteristic facies, gray sclerae, typical fractures) and absence of classical features of OI type V with a de novo recurrent IFITM5 mutation (c.-14C > T), now typical of OI type V. This highlights the variability of OI caused by IFITM5 mutations and suggests screening for mutations in this gene in most cases of OI where type 1 collagen mutations are absent.
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