{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T19:32:15Z","timestamp":1794339135340,"version":"4.9.0"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T00:00:00Z","timestamp":1588896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","award":["2017J01219"],"award-info":[{"award-number":["2017J01219"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteogenesis imperfecta (OI) type V is a rare heritable bone disorder caused by pathogenic variants of <jats:italic>IFITM5<\/jats:italic>. Only two mutated alleles in <jats:italic>IFITM5<\/jats:italic> have been identified worldwide, the role of which in OI pathology is not fully understood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A neonatal case of suspected OI, clinically manifested as a rare clavicle transection fracture with delayed early fracture healing, was studied. Subtle variants of OI\u2010associated genes were analyzed by whole exome sequencing and confirmed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A de novo heterozygous pathogenic variant of <jats:italic>IFITM5<\/jats:italic> within the 5\u2032\u2010UTR (c.\u20109C\u00a0&gt;\u00a0A) was discovered in the proband. Bioinformatics analysis using a combination of various algorithms predicted that the variant would generate a new in\u2010frame start codon 9\u00a0bp upstream of the original and express a mutant IFITM5 protein with three additional amino acids (Met\u2010Glu\u2010Pro). After transfection into a eukaryocyte in vitro, the mutant IFITM5 construct produced a longer transcription product than that of wild\u2010type IFITM5.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study identified a novel pathogenic variant of <jats:italic>IFITM5<\/jats:italic>, which not only manifested the molecular characteristics of <jats:italic>IFITM5<\/jats:italic>, but also provided new evidence for the study of the molecular mechanisms of IFITM5 association with OI.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1287","type":"journal-article","created":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T08:16:51Z","timestamp":1588925811000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A novel variant of the <i>IFITM5<\/i> gene within the 5\u2032\u2010UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6255-0380","authenticated-orcid":false,"given":"Dong","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology 900 Hospital of the Joint Logistics Team or Dongfang Hospital Fuzhou Fujian People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Ultrasound 900 Hospital of the Joint Logistics Team or Dongfang Hospital Fuzhou Fujian People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijuan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology 900 Hospital of the Joint Logistics Team or Dongfang Hospital Fuzhou Fujian People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-200511000-00013"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.22"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-418687-3.00019-7"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3180"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.070418"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.005"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2173"},{"issue":"2","key":"e_1_2_9_9_1","first-page":"37","article-title":"Phenotypic variability in individuals with type V osteogenesis imperfecta with identical Ifitm5 mutations","volume":"1","author":"Fitzgerald J.","year":"2013","journal-title":"Journal of Rare Disorders"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2000.15.9.1650"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1983"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36409"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00774-015-0667-1"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00774-010-0221-0"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-019-0637-x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp373"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2363"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000279"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.injury.2019.10.033"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080412"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.37"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu703"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2017.11.013"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101307"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2017.11.003"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.011"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1891"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"issue":"5","key":"e_1_2_9_32_1","first-page":"975","article-title":"Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta","volume":"46","author":"Wenstrup R. 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