{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T22:08:46Z","timestamp":1791756526421,"version":"4.3.4"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,1,24]],"date-time":"2019-01-24T00:00:00Z","timestamp":1548288000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003510","name":"Estonian Ministry of Education and Research","doi-asserted-by":"crossref","award":["DIOXMED"],"award-info":[{"award-number":["DIOXMED"]}],"id":[{"id":"10.13039\/501100003510","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003510","name":"Estonian Ministry of Education and Research","doi-asserted-by":"crossref","award":["EVMED"],"award-info":[{"award-number":["EVMED"]}],"id":[{"id":"10.13039\/501100003510","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between the genotypes and phenotypes of <jats:italic>de novo<\/jats:italic> and inherited collagen\u2010related OI were investigated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A comparative analysis was performed of the genotypes and phenotypes of 146 unrelated inherited and <jats:italic>de novo<\/jats:italic> collagen I OI cases from Estonia, Ukraine, and Vietnam. Mutational analysis of the subjects and all available parents were performed with Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Results showed that 56.16% of the OI cases were caused by <jats:italic>de novo<\/jats:italic> pathogenic variants. The proportion of OI types OI1, OI4, and OI3 among subjects with inherited OI was 45.31%, 46.88%, and 7.81%, respectively. Among subjects with <jats:italic>de novo<\/jats:italic> OI, the proportions of OI types (OI1, OI4, and OI3) were almost equal. Both inherited and <jats:italic>de novo<\/jats:italic> OI pathogenic variants occurred more often in the <jats:italic>COL1A1<\/jats:italic> gene than in the <jats:italic>COL1A2<\/jats:italic>. The majority of <jats:italic>de novo<\/jats:italic> cases were missense pathogenic variants, whereas inherited OI was mostly caused by loss of function pathogenic variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In summary, there were significant differences between the phenotypes and genotypes of subjects with <jats:italic>de novo<\/jats:italic> and inherited OI. These findings may promote the further understanding of OI etiology, and assist with diagnostics procedures, as well as with family planning.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.559","type":"journal-article","created":{"date-parts":[[2019,1,24]],"date-time":"2019-01-24T20:56:36Z","timestamp":1548363396000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["<i>De novo<\/i> and inherited pathogenic variants in collagen\u2010related osteogenesis imperfecta"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4682-0402","authenticated-orcid":false,"given":"Lidiia","family":"Zhytnik","sequence":"first","affiliation":[{"name":"Department of Traumatology and Orthopedics University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katre","family":"Maasalu","sequence":"additional","affiliation":[{"name":"Department of Traumatology and Orthopedics University of Tartu Tartu Estonia"},{"name":"Clinic of Traumatology and Orthopedics Tartu University Hospital Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Binh Ho","family":"Duy","sequence":"additional","affiliation":[{"name":"Hue University of Medicine and Pharmacy, Hue University Hue Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrey","family":"Pashenko","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics Sytenko Institute of Spine and Joint Pathology, AMS Ukraine Kharkiv Ukraine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Khmyzov","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics Sytenko Institute of Spine and Joint Pathology, AMS Ukraine Kharkiv Ukraine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ene","family":"Reimann","sequence":"additional","affiliation":[{"name":"Centre of Translational Medicine University of Tartu Tartu Estonia"},{"name":"Department of Pathophysiology University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ele","family":"Prans","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sulev","family":"K\u00f5ks","sequence":"additional","affiliation":[{"name":"Centre for Comparative Genomics Murdoch University  Perth Australia"},{"name":"Perron Institute for Neurological and Translational Science University of Western Australia  Perth Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aare","family":"M\u00e4rtson","sequence":"additional","affiliation":[{"name":"Department of Traumatology and Orthopedics University of Tartu Tartu Estonia"},{"name":"Clinic of Traumatology and Orthopedics Tartu University Hospital Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,1,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1110-1"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.4061\/2011\/540178"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00264-016-3315-z"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.5772\/50858"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.me.43.020192.001413"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.02.009"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2013.01.007"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.addr.2003.08.002"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-016-0083-1"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0040007"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-015-0028-0"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.52"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.04.021"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.990702"},{"key":"e_1_2_11_17_1","doi-asserted-by":"crossref","unstructured":"Shapiro J. 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