{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T16:49:29Z","timestamp":1792601369689,"version":"4.5.0"},"reference-count":25,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Osteogenesis imperfecta type V (OI-V) has a wide clinical variability, with distinct clinical\/radiological features, such as calcification of the interosseous membrane (CIM) between the radius-ulna and\/or tibia-fibula, hyperplastic callus (HPC) formation, dislocation of the radial head (DRH), and absence of dentinogenesis imperfecta (DI). Recently, a single heterozygous mutation (c.-14C&gt;T) in the 5\u2032UTR of the &lt;i&gt;IFITM5&lt;\/i&gt; gene was identified to be causative for OI-V. Here, we describe 7 individuals from 5 unrelated families that carry the c.-14C&gt;T &lt;i&gt;IFITM5&lt;\/i&gt; mutation. The clinical findings in these cases are: absence of DI in all patients, presence of blue sclera in 2 cases, and 4 patients with DRH. Radiographic findings revealed HPC in 3 cases. All patients presented CIM between the radius and ulna, while 4 patients presented additional CIM between the tibia and fibula. Spinal fractures by vertebral compression were observed in all individuals. The proportion of cases identified with this mutation represents 4% of OI cases at our institution. The clinical identification of OI-V is crucial, as this mutation has an autosomal dominant inheritance with variable expressivity.<\/jats:p>","DOI":"10.1159\/000439506","type":"journal-article","created":{"date-parts":[[2015,9,2]],"date-time":"2015-09-02T21:01:30Z","timestamp":1441227690000},"page":"164-172","source":"Crossref","is-referenced-by-count":24,"title":["Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V"],"prefix":"10.1159","volume":"6","author":[{"given":"Evelise","family":"Brizola","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo P.","family":"Mattos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia O.A.","family":"Freire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Germer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan C.","family":"Llerena Jr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00eamis M.","family":"F\u00e9lix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2015,9,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32836032f0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.070418"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.005"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2000.15.9.1650"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1983"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36409"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s00774-010-0221-0"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2156"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36024"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2474-15-107"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2006.21.4.709"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2363"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080412"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101307"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-3082"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.011"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1891"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36025"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36545"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.10.007"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2005.07.020"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1590\/S0482-50042007000100006"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0072337"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/439506","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/439506","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/439506","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:50:19Z","timestamp":1745430619000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000439506"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":25,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2015,10,1]]},"published-print":{"date-parts":[[2015,10,27]]}},"URL":"https:\/\/doi.org\/10.1159\/000439506","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}