{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T09:44:17Z","timestamp":1771494257008,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,7,24]],"date-time":"2018-07-24T00:00:00Z","timestamp":1532390400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is the most common skeletal dysplasia, which predisposes to recurrent fractures and bone deformity and presents with wide clinical variability. More than 80% of OI cases are related to dominantly inherited mutations in <jats:italic>COL1A1<\/jats:italic> or <jats:italic>COL1A2<\/jats:italic>. The rest of the cases, however, involve many other noncollagen genes, all of which are autosomal\u2010recessively inherited, except for <jats:italic>IFITM5<\/jats:italic> and <jats:italic>WNT1<\/jats:italic>, which are also associated with autosomal dominant OI. Since 2012, a single recurrent heterozygous mutation in <jats:italic>IFITM5<\/jats:italic> (c.\u201014C&gt;T) has been shown to underlie OI type V. Although this is the most common OI\u2010causing mutation in <jats:italic>IFITM5<\/jats:italic>, a second, less common mutation in <jats:italic>IFITM5<\/jats:italic>, c.119C&gt;T (p.Ser40Leu), has been identified, which is not associated with the OI type V phenotype. In this report, we describe the clinical and radiological features of a further patient with this uncommon mutation in <jats:italic>IFITM5<\/jats:italic> (c.119C&gt;T, p.Ser40Leu). The patient presented with prenatal signs of severe OI and developed extreme short stature with short and bowed limbs, relative macrocephaly, scoliosis, vertebral compression, and a hypoplastic thorax. He had global developmental delay, recurrent respiratory problems, and required special family care and multidisciplinary treatment. To date, all patients with the uncommon c.119C&gt;T mutation have presented with severe OI, rather than OI type V. Thus, this report further strengthens the case for a genotype\u2013phenotype correlation for <jats:italic>IFITM5<\/jats:italic>\u2010related OI.<\/jats:p>","DOI":"10.1111\/ahg.12275","type":"journal-article","created":{"date-parts":[[2018,7,24]],"date-time":"2018-07-24T11:39:58Z","timestamp":1532432398000},"page":"477-481","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Uncommon <i>IFITM5<\/i> mutation associated with severe skeletal deformity in osteogenesis imperfecta"],"prefix":"10.1111","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5750-7222","authenticated-orcid":false,"given":"Mercedes","family":"Rodriguez Celin","sequence":"first","affiliation":[{"name":"Growth and development Service Garrahan Pediatric Hospital  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahida","family":"Moosa","sequence":"additional","affiliation":[{"name":"University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Fano","sequence":"additional","affiliation":[{"name":"Growth and development Service Garrahan Pediatric Hospital  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,7,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.005"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anpedi.2009.12.022"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2173"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"},{"key":"e_1_2_7_6_1","unstructured":"Glorieux F. H.(ed.) (2007).Guide to Osteogenesis Imperfecta for pediatricians and family practice physicians.Bethesda MD: National Institutes of Health Osteoporosis and Related Bone Diseases \u223c National Resource Center in cooperation with the Osteogenesis Imperfecta Foundation. Available athttps:\/\/permanent.fdlp.gov\/lps115586\/pediatricians_guide.pdf"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1983"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36409"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2156"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-017-4143-8"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000117"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12409"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101307"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36545"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fahg.12275","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12275","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ahg.12275","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12275","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T03:03:08Z","timestamp":1693364588000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,24]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1111\/ahg.12275"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12275","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,24]]},"assertion":[{"value":"2018-03-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-07-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}