{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T13:28:42Z","timestamp":1740144522964,"version":"3.37.3"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T00:00:00Z","timestamp":1721347200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T00:00:00Z","timestamp":1721347200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A paper published in Orphanet Journal of Rare Diseases proposes a new classification of osteogenesis imperfecta (OI) based upon underlying pathological mechanisms. The proposed numbering of OI types conflicts with the currently used numbering and is likely to lead to confusion. In addition, classification of OI according to underlying pathogenic mechanisms is not novel.<\/jats:p>","DOI":"10.1186\/s13023-024-03269-9","type":"journal-article","created":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T13:02:08Z","timestamp":1721394128000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7667-187X","authenticated-orcid":false,"given":"Raymond","family":"Dalgleish","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7890-4411","authenticated-orcid":false,"given":"Dimitra","family":"Micha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3543-7531","authenticated-orcid":false,"given":"Andrea","family":"Superti-Furga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6341-169X","authenticated-orcid":false,"given":"Fleur S.","family":"van Dijk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5638-2998","authenticated-orcid":false,"given":"David O.","family":"Sillence","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,19]]},"reference":[{"key":"3269_CR1","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1186\/s13023-023-02849-5","volume":"18","author":"H Yu","year":"2023","unstructured":"Yu H, Li C, Wu H, Xia W, Wang Y, Zhao J, Xu C. Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification. Orphanet J Rare Dis. 2023;18:234. https:\/\/doi.org\/10.1186\/s13023-023-02849-5.","journal-title":"Orphanet J Rare Dis"},{"key":"3269_CR2","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1136\/jmg.16.2.101","volume":"16","author":"DO Sillence","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101\u201316. https:\/\/doi.org\/10.1136\/jmg.16.2.101.","journal-title":"J Med Genet"},{"key":"3269_CR3","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1002\/ajmg.a.33909","volume":"155a","author":"ML Warman","year":"2011","unstructured":"Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011;155a:943\u201368. https:\/\/doi.org\/10.1002\/ajmg.a.33909.","journal-title":"Am J Med Genet A"},{"key":"3269_CR4","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1002\/ajmg.a.36545","volume":"164a","author":"FS Van Dijk","year":"2014","unstructured":"Van Dijk FS, Sillence DO. Osteogenesis Imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164a:1470\u201381. https:\/\/doi.org\/10.1002\/ajmg.a.36545.","journal-title":"Am J Med Genet A"},{"key":"3269_CR5","doi-asserted-by":"publisher","first-page":"1164","DOI":"10.1002\/ajmg.a.63132","volume":"191","author":"S Unger","year":"2023","unstructured":"Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023;191:1164\u2013209. https:\/\/doi.org\/10.1002\/ajmg.a.63132.","journal-title":"Am J Med Genet A"},{"key":"3269_CR6","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1038\/s41588-020-0669-3","volume":"52","author":"EA Bruford","year":"2020","unstructured":"Bruford EA, Braschi B, Denny P, Jones TEM, Seal RL, Tweedie S. Guidelines for human gene nomenclature. Nat Genet. 2020;52:754\u20138. https:\/\/doi.org\/10.1038\/s41588-020-0669-3.","journal-title":"Nat Genet"},{"key":"3269_CR7","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1016\/s0140-6736(15)00728-x","volume":"387","author":"A Forlino","year":"2016","unstructured":"Forlino A, Marini JC, Osteogenesis imperfecta. Lancet. 2016;387:1657\u201371. https:\/\/doi.org\/10.1016\/s0140-6736(15)00728-x.","journal-title":"Lancet"},{"key":"3269_CR8","doi-asserted-by":"publisher","first-page":"dmm049398","DOI":"10.1242\/dmm.049398","volume":"15","author":"N Garibaldi","year":"2022","unstructured":"Garibaldi N, Besio R, Dalgleish R, Villani S, Barnes AM, Marini JC, Forlino A. Dissecting the phenotypic variability of osteogenesis imperfecta. Dis Models Mech. 2022;15:dmm049398. https:\/\/doi.org\/10.1242\/dmm.049398.","journal-title":"Dis Models Mech"},{"key":"3269_CR9","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1210\/endrev\/bnab017","volume":"43","author":"M Jovanovic","year":"2022","unstructured":"Jovanovic M, Guterman-Ram G, Marini JC. Osteogenesis Imperfecta: mechanisms and signaling pathways connecting classical and rare OI types. Endocr Rev. 2022;43:61\u201390. https:\/\/doi.org\/10.1210\/endrev\/bnab017.","journal-title":"Endocr Rev"},{"key":"3269_CR10","doi-asserted-by":"publisher","unstructured":"Sillence DO. A dyadic nosology for osteogenesis imperfecta and bone fragility syndromes 2024. Calcif Tissue Int. 2024; Online ahead of print. https:\/\/doi.org\/10.1007\/s00223-024-01248-7.","DOI":"10.1007\/s00223-024-01248-7"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03269-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03269-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03269-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T13:03:47Z","timestamp":1721394227000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03269-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,19]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3269"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03269-9","relation":{},"ISSN":["1750-1172"],"issn-type":[{"type":"electronic","value":"1750-1172"}],"subject":[],"published":{"date-parts":[[2024,7,19]]},"assertion":[{"value":"16 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"There are no ethical or consent issues as no patient data are included in this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent is not relevant as no patient data are included in this article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"None of the authors have competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"RD has investigated the molecular genetic basis of osteogenesis imperfecta and Ehlers Danlos syndrome since the 1980s. He established variant databases for these two disorders in the 1990s:  and .DM has studied connective tissue disorders including osteogenesis imperfecta for many years. She now maintains the osteogenesis imperfecta variant database with colleagues at Amsterdam UMC.AS-F is a clinical geneticist with specific interests in connective tissue disorders including osteogenesis imperfecta. He was corresponding author of both the 2010 and 2023 revisions of the nosology of genetic skeletal disorders.FSvD is a clinical geneticist who has investigated osteogenesis imperfecta and Ehlers Danlos syndrome from both the clinical and genetical perspectives. She currently works at the North West Thames Regional Genetics Service, London UK, specialising in osteogenesis imperfecta and monogenic forms of Ehlers Danos syndrome. She is also on the Medical Advisory board of care4brittle bones. She co-wrote an extensive review of OI types with DOS in 2014.DOS is a medical geneticist who established the first classification of osteogenesis imperfecta in 1979. He has contributed widely to revisions of skeletal disorder nosologies including the 2023 revision He currently serves on the International Nomenclature Committee for Constitutional Disorders of the Skeleton.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Authors\u2019information"}}],"article-number":"272"}}