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Tooth agenesis is a common feature of <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>. We investigated the association between tooth agenesis and collagen type I mutations in individuals with <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and methods<\/jats:title><jats:p>In this cohort study, 128 unrelated individuals with <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> were included. Panoramic radiographs were analyzed regarding dentinogenesis imperfecta (<jats:styled-content style=\"fixed-case\">DGI<\/jats:styled-content>) and congenitally missing teeth. The collagen I genes were sequenced in all individuals, and in 25, multiplex ligation\u2010dependent probe amplification was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mutations in the <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic> genes were found in 104 of 128 individuals. Tooth agenesis was diagnosed in 17% (hypodontia 11%, oligodontia 6%) and was more frequent in those with <jats:styled-content style=\"fixed-case\">DGI<\/jats:styled-content> (<jats:italic>P\u00a0<\/jats:italic>=\u00a00.016), and in those with <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> type <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content>, 47%, compared to those with <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> types I, 12% (<jats:italic>P\u00a0<\/jats:italic>=<jats:italic>\u00a0<\/jats:italic>0.003), and <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>, 13% (<jats:italic>P\u00a0<\/jats:italic>=<jats:italic>\u00a0<\/jats:italic>0.017). Seventy\u2010five percent of the individuals with oligodontia (\u22656 missing teeth) had qualitative mutations, but there was no association with <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> type, gender, or presence of <jats:styled-content style=\"fixed-case\">DGI<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The prevalence of tooth agenesis is high (17%) in individuals with <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>, and <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> caused by a qualitative collagen I mutation is associated with oligodontia.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12568","type":"journal-article","created":{"date-parts":[[2016,8,11]],"date-time":"2016-08-11T08:53:25Z","timestamp":1470905605000},"page":"42-49","source":"Crossref","is-referenced-by-count":44,"title":["Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes"],"prefix":"10.1111","volume":"23","author":[{"given":"B","family":"Malmgren","sequence":"first","affiliation":[{"name":"Division of Pediatric Dentistry Department of Dental Medicine Karolinska Institutet Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Andersson","sequence":"additional","affiliation":[{"name":"Division of Pediatric Dentistry Department of Dental Medicine Karolinska Institutet Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Lindahl","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences Uppsala University Uppsala Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Kindmark","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences Uppsala University Uppsala Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Grigelioniene","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden"},{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Zachariadis","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Dahll\u00f6f","sequence":"additional","affiliation":[{"name":"Division of Pediatric Dentistry Department of Dental Medicine Karolinska Institutet Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"\u00c5str\u00f6m","sequence":"additional","affiliation":[{"name":"Neuropediatric unit Karolinska University Hospital Stockholm Sweden"},{"name":"Department of Women's and Children's Health Karolinska Institutet Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,9,13]]},"reference":[{"key":"e_1_2_11_2_1","first-page":"257","article-title":"Hypodontia in 9\u2010year\u2010old Norwegians related to need of orthodontic treatment","volume":"101","author":"Aasheim B","year":"1993","journal-title":"Scand J Dent Res"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03198.x"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/00220345010800051201"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1998.tb01388.x"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/00016350310001451"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1067\/mod.2000.97938"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-263x.2001.00205.x"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.ctdb.2015.07.006"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.2006.00741.x"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34045"},{"key":"e_1_2_11_12_1","first-page":"145","article-title":"An orthopantomographic study of hypodontia, supernumeraries and other anomalies in school children between the ages of 8\u20139\u00a0years. 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