{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T06:23:25Z","timestamp":1789971805561,"version":"4.0.1"},"reference-count":9,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,4,28]],"date-time":"2018-04-28T00:00:00Z","timestamp":1524873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p>Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor <jats:italic>TBX22<\/jats:italic> have been involved in isolated ankyloglossia and X\u2010linked cleft palate. The knockout of <jats:italic>Lgr5<\/jats:italic> in mice results in ankyloglossia. Here, we report a five\u2010generation family including patients with severe ankyloglossia and missing lower central incisors. Two members of this family also exhibited congenital anorectal malformations. In this report, male\u2010to\u2010male transmission was in favor of an autosomal dominant inheritance, which allowed us to exclude the X\u2010linked <jats:italic>TBX22<\/jats:italic> gene. Linkage analysis using short tandem repeat markers located in the vicinity of <jats:italic>LGR5<\/jats:italic> excluded this gene as a potential candidate. These results indicate genetic heterogeneity for ankyloglossia. Further investigations with additional families are required in order to identify novel candidate genes.<\/jats:p>","DOI":"10.1002\/ajmg.a.38690","type":"journal-article","created":{"date-parts":[[2018,4,28]],"date-time":"2018-04-28T07:35:14Z","timestamp":1524900914000},"page":"1614-1617","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Familial autosomal dominant severe ankyloglossia with tooth abnormalities"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7377-0634","authenticated-orcid":false,"given":"Ana\u00eblle","family":"Lenormand","sequence":"first","affiliation":[{"name":"Clinique de Stomatologie et de Chirurgie Maxillo\u2010Faciale, CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman","family":"Khonsari","sequence":"additional","affiliation":[{"name":"Assistantce publique\u2014h\u00f4pitaux de Paris, Service de chirurgie maxillofaciale et plastique, H\u00f4pital Universitaire Necker\u2014Enfants Malades, Universit\u00e9 Sorbonne Paris cit\u00e9, Universit\u00e9 Paris\u2014Descartes Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Corre","sequence":"additional","affiliation":[{"name":"Clinique de Stomatologie et de Chirurgie Maxillo\u2010Faciale, CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Philippe","family":"Perrin","sequence":"additional","affiliation":[{"name":"Clinique de Stomatologie et de Chirurgie Maxillo\u2010Faciale, CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Boscher","sequence":"additional","affiliation":[{"name":"Service de N\u00e9onatologie, CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Nizon","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Pichon","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cedric","family":"Le Caignec","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helios","family":"Bertin","sequence":"additional","affiliation":[{"name":"Clinique de Stomatologie et de Chirurgie Maxillo\u2010Faciale, CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Nantes Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034509356401"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng730"},{"issue":"4","key":"e_1_2_5_4_1","first-page":"481","article-title":"Labial ankyloglossia associated with oligodontia: A case report","volume":"11","author":"Chandrashekar L.","year":"2014","journal-title":"Journal of Dentistry (Tehran)"},{"issue":"36","key":"e_1_2_5_5_1","first-page":"2203","article-title":"[Dominantly hereditary ankyloglossia]","volume":"96","author":"Keizer D. 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