{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:32:45Z","timestamp":1787009565131,"version":"build-2736575974"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T00:00:00Z","timestamp":1686700800000},"content-version":"vor","delay-in-days":14,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000156","name":"Fonds de Recherche du Qu\u00e9bec\u2014Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012013","name":"R\u00e9seau de Recherche en Sant\u00e9 Buccodentaire et Osseuse","doi-asserted-by":"publisher","award":["247292"],"award-info":[{"award-number":["247292"]}],"id":[{"id":"10.13039\/100012013","id-type":"DOI","asserted-by":"publisher"}]},{"name":"BioTalent Canada Student Work Placement Program"},{"DOI":"10.13039\/501100005242","name":"Universit\u00e9 de Montr\u00e9al","doi-asserted-by":"publisher","award":["FMD2016"],"award-info":[{"award-number":["FMD2016"]}],"id":[{"id":"10.13039\/501100005242","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>There are more than 900 genetic syndromes associated with oral manifestations. These syndromes can have serious health implications, and left undiagnosed, can hamper treatment and prognosis later in life. About 6.67% of the population will develop a rare disease during their lifetime, some of which are difficult to diagnose. The establishment of a data and tissue bank of rare diseases with oral manifestations in Quebec will help medical professionals identify the genes involved, will improve knowledge on the rare genetic diseases, and will also lead to improved patient management. It will also allow samples and information sharing with other clinicians and investigators. As an example of a condition requiring additional research, dental ankylosis is a condition in which the tooth's cementum fuses to the surrounding alveolar bone. This can be secondary to traumatic injury but is often idiopathic, and the genes involved in the idiopathic cases, if any, are poorly known. To date, patients with both identified and unidentified genetic etiology for their dental anomalies were recruited through dental and genetics clinics for the study. They underwent sequencing of selected genes or exome sequencing depending on the manifestation. We recruited 37 patients and we identified pathogenic or likely pathogenic variants in WNT10A, EDAR, AMBN, PLOD1, TSPEAR, PRKAR1A, FAM83H, PRKACB, DLX3, DSPP, BMP2, TGDS. Our project led to the establishment of the Quebec Dental Anomalies Registry, which will help researchers, medical and dental practitioners alike understand the genetics of dental anomalies and facilitate research collaborations into improved standards of care for patients with rare dental anomalies and any accompanying genetic diseases.<\/jats:p>","DOI":"10.1093\/pnasnexus\/pgad196","type":"journal-article","created":{"date-parts":[[2023,6,13]],"date-time":"2023-06-13T17:09:25Z","timestamp":1686676165000},"source":"Crossref","is-referenced-by-count":2,"title":["The Quebec Dental Anomalies Registry: Identifying genes for rare disorders"],"prefix":"10.1093","volume":"2","author":[{"given":"Madeleine S","family":"Wredenhagen","sequence":"first","affiliation":[{"name":"CHU Sainte-Justine Research Center, 3175 Chemin de la C\u00f4te-Sainte-Catherine, Montreal, QC, Canada, H3T1C5 and University of Ottawa , 75 Laurier Ave E, Ottawa, ON , Canada K1N 6N5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andee","family":"Goldstein","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center, 3175 Chemin de la C\u00f4te-Sainte-Catherine, Montreal, QC, Canada, H3T1C5 and Universit\u00e9 de Montr\u00e9al , 2900 Edouard Montpetit Boulevard, Montreal, QC , Canada , H3T1C5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Mathieu","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center, 3175 Chemin de la C\u00f4te-Sainte-Catherine, Montreal, QC, Canada, H3T1C5 and Universit\u00e9 de Montr\u00e9al , 2900 Edouard Montpetit Boulevard, Montreal, QC , Canada , H3T1C5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valancy","family":"Miranda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, CHU Sainte-Justine Research Center , 3175 Chemin de la C\u00f4te-Sainte-Catherine, Montreal, QC , Canada , H3T1C5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burcin","family":"Morali","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, CHU Sainte-Justine , 3175 Chemin de la C\u00f4te-Sainte-Catherine, Montreal, QC , Canada , H3T1C5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinthe","family":"Santerre","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, CHU Sainte-Justine , 3175 Chemin de la C\u00f4te-Sainte-Catherine, Montreal, QC , Canada , H3T1C5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalina","family":"Maftei","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine, Genetic Service , 3175 Chemin de la C\u00f4te-Sainte-Catherine, Montreal, QC , Canada , H3T1C5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Ange","family":"Delrue","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, CHU Sainte-Justine , 3175 Chemin de la C\u00f4te-Sainte-Catherine, Montreal, QC , Canada , H3T1C5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Schmittbuhl","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry, Department of Stomatology, Universit\u00e9 of Montr\u00e9al , 2900 Edouard Montpetit Boulevard, Montreal, QC , Canada H3T 1J4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duy Dat","family":"Vu","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry, Universit\u00e9 of Montr\u00e9al , 2900 Edouard Montpetit Boulevard, Montreal, QC , Canada H3T 1J4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3028-672X","authenticated-orcid":false,"given":"Florina","family":"Moldovan","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center and Faculty of Dentistry, Department of Stomatology, Universit\u00e9 de Montr\u00e9al , 2900 Edouard Montpetit Boulevard, Montreal, QC , Canada , H3T1C5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe M","family":"Campeau","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, CHU Sainte-Justine Research Center, 3175 Chemin de la C\u00f4te-Sainte-Catherine, and Universit\u00e9 de Montr\u00e9al, 2900 Edouard Montpetit Boulevard , Montreal, QC , Canada , H3T1C5"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,6,14]]},"reference":[{"issue":"2","key":"2023073115561591700_pgad196-B1","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database","volume":"28","author":"Nguengang Wakap","year":"2020","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"2023073115561591700_pgad196-B2","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1159\/000369565","article-title":"Enamel formation genes associated with dental erosive wear","volume":"49","author":"S\u00f8vik","year":"2015","journal-title":"Caries Res"},{"issue":"6","key":"2023073115561591700_pgad196-B3","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1002\/ar.24086","article-title":"Genetic disorders of the extracellular matrix","volume":"303","author":"Lamand\u00e9","year":"2020","journal-title":"Anat Rec (Hoboken)"},{"key":"2023073115561591700_pgad196-B4","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1750-1172-2-17","article-title":"Amelogenesis imperfecta","volume":"2","author":"Crawford","year":"2007","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"2023073115561591700_pgad196-B5","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0300-9785(84)80069-1","article-title":"Tooth ankylosis. Clinical, radiographic and histological assessments","volume":"13","author":"Andersson","year":"1984","journal-title":"Int J Oral Surg"},{"issue":"5","key":"2023073115561591700_pgad196-B6","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1136\/jmedgenet-2012-100750","article-title":"Mutations in WNT10A are present in more than half of isolated hypodontia cases","volume":"49","author":"van den Boogaard","year":"2012","journal-title":"J Med Genet"},{"issue":"1","key":"2023073115561591700_pgad196-B7","doi-asserted-by":"crossref","first-page":"264","DOI":"10.4103\/jfmpc.jfmpc_20_17","article-title":"A case report of hypohidrotic ectodermal dysplasia: a mini-review with latest updates","volume":"7","author":"Meshram","year":"2018","journal-title":"J Family Med Prim Care"},{"issue":"8","key":"2023073115561591700_pgad196-B8","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1002\/ajmg.a.62347","article-title":"TSPEAR Variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: a novel cohort study","volume":"185","author":"Bowles","year":"2021","journal-title":"Am J Med Genet A"},{"issue":"1","key":"2023073115561591700_pgad196-B9","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/ejhg.2016.117","article-title":"The association between WNT10A variants and dental development in patients with isolated oligodontia","volume":"25","author":"Dhamo","year":"2016","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"2023073115561591700_pgad196-B10","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.ajhg.2009.06.001","article-title":"WNT10A Mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes","volume":"85","author":"Bohring","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"11","key":"2023073115561591700_pgad196-B11","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0080393","article-title":"Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population","volume":"8","author":"He","year":"2013","journal-title":"PLoS One"},{"key":"2023073115561591700_pgad196-B12","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s12895-016-0040-7","article-title":"Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation","volume":"16","author":"Kr\u00f8ig\u00e5rd","year":"2016","journal-title":"BMC Dermatol"},{"key":"2023073115561591700_pgad196-B13","article-title":"A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect","volume":"2013","author":"Lee","year":"2013","journal-title":"Biomed Res Int"},{"issue":"8","key":"2023073115561591700_pgad196-B14","doi-asserted-by":"crossref","first-page":"2044","DOI":"10.1111\/odi.13182","article-title":"Novel frameshift mutations in DSPP cause dentin dysplasia type II","volume":"25","author":"Lee","year":"2019","journal-title":"Oral Dis"},{"issue":"5","key":"2023073115561591700_pgad196-B15","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1016\/j.ajhg.2020.09.005","article-title":"Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome","volume":"107","author":"Palencia-Campos","year":"2020","journal-title":"Am J Hum Genet"},{"issue":"11","key":"2023073115561591700_pgad196-B16","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1007\/s00234-020-02467-z","article-title":"Potential of iterative reconstruction for maxillofacial cone beam CT imaging: technical note","volume":"62","author":"Matenine","year":"2020","journal-title":"Neuroradiology"}],"container-title":["PNAS Nexus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pnasnexus\/advance-article-pdf\/doi\/10.1093\/pnasnexus\/pgad196\/50602422\/pgad196.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pnasnexus\/article-pdf\/2\/6\/pgad196\/51011789\/pgad196.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pnasnexus\/article-pdf\/2\/6\/pgad196\/51011789\/pgad196.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,31]],"date-time":"2023-07-31T11:57:00Z","timestamp":1690804620000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pnasnexus\/article\/doi\/10.1093\/pnasnexus\/pgad196\/7197657"}},"subtitle":[],"editor":[{"given":"Christopher","family":"Dupont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2023,5,31]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,5,31]]}},"URL":"https:\/\/doi.org\/10.1093\/pnasnexus\/pgad196","relation":{},"ISSN":["2752-6542"],"issn-type":[{"value":"2752-6542","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,6]]},"published":{"date-parts":[[2023,5,31]]},"article-number":"pgad196"}}