{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:39:55Z","timestamp":1769906395338,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orthod Craniofacial Res"],"published-print":{"date-parts":[[2018,5]]},"abstract":"Structured Abstract<\/jats:title>Objects<\/jats:title>To investigate the relationship between genotype and severity of malocclusion in osteogenesis imperfecta (OI<\/jats:styled-content>).<\/jats:p><\/jats:sec>Setting and Sample Population<\/jats:title>A total of 49 patients participated in this cross\u2010sectional study (age range: 5\u201019\u00a0years; 28 females; diagnoses: OI<\/jats:styled-content> type I, N\u00a0=\u00a07; OI<\/jats:styled-content> type III<\/jats:styled-content>, N\u00a0=\u00a011; OI<\/jats:styled-content> type IV<\/jats:styled-content>, N\u00a0=\u00a027; OI<\/jats:styled-content> type V, N\u00a0=\u00a02; OI<\/jats:styled-content> type VI<\/jats:styled-content>, N\u00a0=\u00a02).<\/jats:p><\/jats:sec>Materials and Methods<\/jats:title>Sequence analysis of COL<\/jats:styled-content>1A1<\/jats:italic>\/COL<\/jats:styled-content>1A2<\/jats:italic> and other OI<\/jats:styled-content>\u2010related genes was compared to the Peer Assessment Rating (PAR<\/jats:styled-content>), an index reflecting the severity of malocclusion.<\/jats:p><\/jats:sec>Results<\/jats:title>The mutation spectrum was as follows: COL<\/jats:styled-content>1A1<\/jats:italic>, N\u00a0=\u00a022; COL<\/jats:styled-content>1A2<\/jats:italic>, N\u00a0=\u00a022, IFITM<\/jats:styled-content>5<\/jats:italic>, N\u00a0=\u00a02; SERPINF<\/jats:styled-content>1<\/jats:italic>, N\u00a0=\u00a02; no mutation detected, N\u00a0=\u00a01). Compared to patients with COL<\/jats:styled-content>1A1<\/jats:italic> mutations, patients with COL<\/jats:styled-content>1A2<\/jats:italic> mutations had significantly higher scores for total PAR<\/jats:styled-content>, anterior cross\u2010bite, anterior open bite and anteroposterior buccal occlusion. Males with COL<\/jats:styled-content>1A2<\/jats:italic> mutations had significantly higher total PAR<\/jats:styled-content> scores than females (median 36 vs 30, P<\/jats:italic>\u00a0=\u00a0.047, Mann\u2010Whitney test). Exploratory correlation between age and buccal vertical occlusion was noted in patients with COL<\/jats:styled-content>1A2<\/jats:italic> mutations (Spearman correlation: r<\/jats:italic>\u00a0=\u00a0.46, P<\/jats:italic>\u00a0=\u00a0.03, power\u00a0=\u00a0.50).<\/jats:p>Two patients with OI<\/jats:styled-content> type V (caused by IFITM<\/jats:styled-content>5<\/jats:italic> mutations) had total PAR<\/jats:styled-content> scores of 44 and 21. Both patients scored high for \u201csegment.\u201d Patients with OI<\/jats:styled-content> type VI<\/jats:styled-content> (due to SERPINF<\/jats:styled-content>1<\/jats:italic> mutations) scored similar to OI<\/jats:styled-content> type V for \u201ccentreline.\u201d Considerable difference was observed in the total PAR<\/jats:styled-content> score between the 2 patients with OI<\/jats:styled-content> type VI<\/jats:styled-content>. They had total PAR<\/jats:styled-content> of 43 and 2.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Type of disease\u2010causing mutation affects the severity of malocclusion in individuals with OI<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ocr.12218","type":"journal-article","created":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T07:50:41Z","timestamp":1517471441000},"page":"71-77","source":"Crossref","is-referenced-by-count":13,"title":["Genotype and malocclusion in patients with osteogenesis imperfecta"],"prefix":"10.1111","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4929-0534","authenticated-orcid":false,"given":"Z.","family":"Jabbour","sequence":"first","affiliation":[{"name":"Faculty of Dentistry McGill University Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Al\u2010Khateeb","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry McGill University Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Eimar","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry McGill University Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Retrouvey","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry McGill University Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Rizkallah","sequence":"additional","affiliation":[{"name":"Montreal Children's Hospital Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. H.","family":"Glorieux","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Rauch","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Tamimi","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry McGill University Montreal QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajodo.2012.10.016"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-016-3709-1"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)00728-X"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.487"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101307"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/cjl035"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2007.11.008"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.091109"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/14.2.125"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034516637045"}],"container-title":["Orthodontics & Craniofacial Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Focr.12218","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ocr.12218","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T11:51:01Z","timestamp":1695556261000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ocr.12218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1111\/ocr.12218"],"URL":"https:\/\/doi.org\/10.1111\/ocr.12218","archive":["Portico"],"relation":{},"ISSN":["1601-6335","1601-6343"],"issn-type":[{"value":"1601-6335","type":"print"},{"value":"1601-6343","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2]]}}}