{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:13:09Z","timestamp":1761718389641},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>Loss\u2010of\u2010function mutations of <jats:italic>RUNX2<\/jats:italic> are responsible for cleidocranial dysplasia, an autosomal dominant disorder characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicles, moderate short stature and supernumerary teeth. By contrast, an increased gene dosage is expected for duplication of the entire <jats:italic>RUNX2<\/jats:italic> sequence and thus, a phenotype different from cleidocranial dysplasia. To date, two cousins with a duplication including the entire <jats:italic>RUNX2<\/jats:italic> sequence in addition to <jats:italic>MIR586<\/jats:italic>, <jats:italic>CLIC5<\/jats:italic> and the 5' half of <jats:italic>SUPT3H<\/jats:italic> have been reported. These patients presented with metopic synostosis and hypodontia.<\/jats:p><jats:p>Here, we report on a family with an affected mother and three affected children. The four patients carried a 285\u2009kb duplication identified by array comparative genomic hybridization. The duplication includes the entire sequence of <jats:italic>RUNX2<\/jats:italic> and the 5\u2032 half of <jats:italic>SUPT3H<\/jats:italic>. We confirmed the duplication by real\u2010time quantitative PCR in the four patients. Two children presented with the association of metopic craniosynostosis and oligo\/hypodontia previously described, confirming the phenotype caused by <jats:italic>RUNX2<\/jats:italic> duplication. Interestingly, the mother and one child had isolated hypodontia without craniosynostosis, broadening the phenotype observed in patients with such duplications. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37052","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:51:41Z","timestamp":1429674701000},"page":"1386-1390","source":"Crossref","is-referenced-by-count":9,"title":["Patients with isolated oligo\/hypodontia caused by RUNX2 duplication"],"prefix":"10.1002","volume":"167","author":[{"given":"Arnaud","family":"Molin","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Laboratoire de cytog\u00e9n\u00e9tique CHU de Caen Caen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena","family":"Lopez\u2010Cazaux","sequence":"additional","affiliation":[{"name":"Departement d'odontologie p\u00e9diatrique facult\u00e9 de chirurgie dentaire Nantes France"},{"name":"Service d'odontologie conservatrice et p\u00e9diatrique CHU de Nantes Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier","family":"Pichon","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Vincent","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"},{"name":"INSERM UMR\u2010957 Laboratoire de physiopathologie de la r\u00e9sorption osseuse et th\u00e9rapie des tumeurs osseuses primitives Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9dric","family":"Le Caignec","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"},{"name":"INSERM UMR\u2010957 Laboratoire de physiopathologie de la r\u00e9sorption osseuse et th\u00e9rapie des tumeurs osseuses primitives Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.09.010"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.121"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e31826686d3"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130112"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.4238\/2013.October.15.5"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11568-008-9024-y"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33557"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.001"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21298"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2009.01623.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37052","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37052","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37052","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:47:15Z","timestamp":1696643235000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37052"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,21]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1002\/ajmg.a.37052"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37052","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,21]]}}}