{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T19:32:06Z","timestamp":1794339126634,"version":"4.9.0"},"reference-count":19,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,10,19]]},"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C&gt;T mutation in\n                      <jats:italic>IFITM5<\/jats:italic>\n                      . In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of the\n                      <jats:italic>IFITM5<\/jats:italic>\n                      mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      <jats:italic>IFITM5<\/jats:italic>\n                      exon 1 was analysed by Sanger sequencing in genomic DNA from 42 patients with OI type V (age: 2\u201367\u2005years; 18 female).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The c.\u221214C&gt;T mutation of\n                      <jats:italic>IFITM5<\/jats:italic>\n                      was detected in all individuals. Indicators of disease severity varied widely: Height z-scores (n=38) ranged from \u22128.7 to \u22120.1, median \u22123.5. Median final height was 147 cm in men (N=15) and 145 cm in women (N=10). Lumbar spine areal bone mineral density z-scores in the absence of bisphosphonate treatment (n=29) were between \u22127.7 and \u22120.7, median \u22125.3. Scoliosis was present in 57%, vertebral compression fractures in 90% of patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Even though the disease-causing mutation is identical among patients with OI type V, the interindividual phenotypic variability is considerable.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmedgenet-2012-101307","type":"journal-article","created":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T08:25:58Z","timestamp":1355387158000},"page":"21-24","source":"Crossref","is-referenced-by-count":111,"title":["Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the\n                    <i>IFITM5<\/i>\n                    c.\u221214C&gt;T mutation in all patients"],"prefix":"10.1136","volume":"50","author":[{"given":"Frank","family":"Rauch","sequence":"first","affiliation":[{"name":"Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Moffatt","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moira","family":"Cheung","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Roughley","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liljana","family":"Lalic","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M","family":"Lund","sequence":"additional","affiliation":[{"name":"Center for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norman","family":"Ramirez","sequence":"additional","affiliation":[{"name":"Pediatric Orthopedic Department, Mayaguez Medical Center, Mayaguez, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somayyeh","family":"Fahiminiya","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis H","family":"Glorieux","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2012,12,13]]},"reference":[{"key":"2025101712072390000_50.1.21.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"2025101712072390000_50.1.21.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"2025101712072390000_50.1.21.3","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"},{"key":"2025101712072390000_50.1.21.4","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2000.15.9.1650"},{"key":"2025101712072390000_50.1.21.5","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.bone.2005.07.020","article-title":"The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta Type 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