{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T04:34:00Z","timestamp":1779338040113,"version":"3.51.4"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2013,5,14]],"date-time":"2013-05-14T00:00:00Z","timestamp":1368489600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,11,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>\u2003<\/jats:title>\n                  <jats:p>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\u2009&amp;gt;\u2009T) 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\u2009&amp;gt;\u2009T), 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. \u00a9 2013 American Society for Bone and Mineral Research.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1002\/jbmr.1983","type":"journal-article","created":{"date-parts":[[2013,5,14]],"date-time":"2013-05-14T14:51:39Z","timestamp":1368543099000},"page":"2333-2337","source":"Crossref","is-referenced-by-count":28,"title":["Osteogenesis imperfecta without features of type V caused by a mutation in the <i>IFITM<\/i>\n                  <i>5<\/i> gene"],"prefix":"10.1093","volume":"28","author":[{"given":"Monica","family":"Grover","sequence":"first","affiliation":[{"name":"Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTXUSA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe M","family":"Campeau","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTXUSA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caressa Dee","family":"Lietman","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTXUSA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James T","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Structural and Computational Biology & Molecular BiophysicsBaylor College of MedicineHoustonTXUSA"},{"name":"Human Genome Sequencing CenterBaylor College of MedicineHoustonTXUSA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard A","family":"Gibbs","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing CenterBaylor College of MedicineHoustonTXUSA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan E","family":"Schlesinger","sequence":"additional","affiliation":[{"name":"Department of RadiologyTexas Children's Hospital and Baylor College of MedicineHoustonTXUSA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brendan H","family":"Lee","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical InstituteHoustonTXUSA"},{"name":"Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTXUSA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,5,14]]},"reference":[{"issue":"2","key":"2024020318340090200_jbmr1983-bib-0001","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence","year":"1979","journal-title":"J Med Genet."},{"key":"2024020318340090200_jbmr1983-bib-0002","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","article-title":"Osteogenesis imperfecta","volume":"363","author":"Rauch","year":"2004","journal-title":"Lancet."},{"issue":"1","key":"2024020318340090200_jbmr1983-bib-0003","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejmg.2009.10.007","article-title":"Classification of Osteogenesis Imperfecta revisited","volume":"53","author":"Van Dijk","year":"2010","journal-title":"Eur J Med Genetics."},{"issue":"9","key":"2024020318340090200_jbmr1983-bib-0004","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1359\/jbmr.2000.15.9.1650","article-title":"Type V osteogenesis imperfecta: a new form of brittle bone disease","volume":"15","author":"Glorieux","year":"2000","journal-title":"J Bone Miner Res."},{"issue":"2","key":"2024020318340090200_jbmr1983-bib-0005","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.ajhg.2012.06.011","article-title":"A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus","volume":"91","author":"Semler","year":"2012","journal-title":"Am J Hum Genetics."},{"issue":"1","key":"2024020318340090200_jbmr1983-bib-0006","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1136\/jmedgenet-2012-101307","article-title":"Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C &gt; T mutation in all patients","volume":"50","author":"Rauch","year":"2013","journal-title":"J Med Genet."},{"issue":"2","key":"2024020318340090200_jbmr1983-bib-0007","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2012.06.005","article-title":"A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V","volume":"91","author":"Cho","year":"2012","journal-title":"Am J Hum Genetics."},{"key":"2024020318340090200_jbmr1983-bib-0008","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1002\/jbmr.1891","article-title":"Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation","volume":"28","author":"Shapiro","year":"2013","journal-title":"J Bone Miner Res."},{"issue":"3","key":"2024020318340090200_jbmr1983-bib-0009","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.bbrc.2011.04.136","article-title":"Osteoblast-enriched membrane protein IFITM5 regulates the association of CD9 with an FKBP11-CD81-FPRP complex and stimulates expression of interferon-induced genes","volume":"409","author":"Hanagata","year":"2011","journal-title":"Biochem Biophys Res Commun."},{"issue":"3","key":"2024020318340090200_jbmr1983-bib-0010","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/s00774-010-0221-0","article-title":"Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice","volume":"29","author":"Hanagata","year":"2011","journal-title":"J Bone Miner Metab."},{"issue":"9","key":"2024020318340090200_jbmr1983-bib-0011","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1359\/jbmr.080412","article-title":"Bril: a novel bone-specific modulator of mineralization","volume":"23","author":"Moffatt","year":"2008","journal-title":"J Bone Miner Res."},{"key":"2024020318340090200_jbmr1983-bib-0012","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/S8756-3282(02)00790-1","article-title":"Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease","volume":"31","author":"Ward","year":"2002","journal-title":"Bone."},{"issue":"2","key":"2024020318340090200_jbmr1983-bib-0013","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ajhg.2011.11.023","article-title":"Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome","volume":"90","author":"Campeau","year":"2012","journal-title":"Am J Hum Genet."},{"key":"2024020318340090200_jbmr1983-bib-0014","first-page":"2078","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics (Oxford, England)."},{"issue":"4","key":"2024020318340090200_jbmr1983-bib-0015","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1101\/gr.2264004","article-title":"The Atlas genome assembly system","volume":"14","author":"Havlak","year":"2004","journal-title":"Genome Res."},{"issue":"9","key":"2024020318340090200_jbmr1983-bib-0016","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"2024020318340090200_jbmr1983-bib-0017","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjbmr.1983","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/28\/11\/2333\/56562653\/jbmr1983.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/28\/11\/2333\/56562653\/jbmr1983.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T14:49:36Z","timestamp":1710341376000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/28\/11\/2333-2337\/7598562"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,14]]},"references-count":17,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2013,5,14]]},"published-print":{"date-parts":[[2013,11,1]]}},"URL":"https:\/\/doi.org\/10.1002\/jbmr.1983","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2013,11,1]]},"published":{"date-parts":[[2013,5,14]]}}}