{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T18:13:24Z","timestamp":1772993604958,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T00:00:00Z","timestamp":1751846400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T00:00:00Z","timestamp":1751846400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,11]]},"abstract":"ABSTRACT<\/jats:title>\n \n More than 100 patients have been reported with osteogenesis imperfecta due to disease\u2010causing variants in\n IFITM5<\/jats:italic>\n . Distinct features of this condition include ossification of the interosseous membrane and hypertrophic calluses. Most of them have a recurrent heterozygous variant in the 5\u2032\u2010UTR (c.\u201014C>T) of\n IFITM5<\/jats:italic>\n . A few patients have a heterozygous missense variant in the first exon of\n IFITM5<\/jats:italic>\n [(c.119C>T) p.Ser40Leu]. These patients do not have the distinctive features that results from c.\u201014C>T variant. Fewer than 10 patients with the c.119C>T variant have been reported so far with most of them being diagnosed at birth or early infancy. We report a 45\u2010year\u2010old male from India with c.119C>T variant with very severe skeletal involvement.\n <\/jats:p>","DOI":"10.1002\/ajmg.a.64172","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T05:19:53Z","timestamp":1751865593000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Distinctive Skeletal Phenotype in an Adult With\n \n IFITM5<\/i>\n <\/scp>\n \u2010Associated Osteogenesis Imperfecta due to p.\n Ser40Leu<\/scp>\n Variant"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3286-0107","authenticated-orcid":false,"given":"Deepak","family":"Amalnath","sequence":"first","affiliation":[{"name":"Department of Medicine Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER) Pondicherry India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7504-4492","authenticated-orcid":false,"given":"Shreya","family":"Rajagopal","sequence":"additional","affiliation":[{"name":"Department of Medicine JIPMER Pondicherry India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koyyagura","family":"Aparna","sequence":"additional","affiliation":[{"name":"Department of Medicine JIPMER Pondicherry India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.30"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.005"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40383"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2173"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36409"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00774-015-0667-1"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2156"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000279"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-017-4143-8"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-021-00878-5"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.728544"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12275"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1287"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63420"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64172","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.64172","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64172","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T14:49:49Z","timestamp":1772981389000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64172"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,7]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1002\/ajmg.a.64172"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64172","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,7]]},"assertion":[{"value":"2025-04-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e64172"}}