title: Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis.
abstract: Genetic defects responsible for tooth agenesis are only now beginning to be uncovered. MSX1 and PAX9 have been associated with tooth agenesis in mice and humans, but interestingly for humans, these genes are associated with specific missing teeth. Mouse models also show that specific genes contribute to the development of specific types of teeth. A precise description of the phenotype specifying which teeth are missing has become fundamental. Mendelian segregation can be identified in families with tooth agenesis, but heterogenous or multiple genes may be responsible for the development of specific types of teeth agenesis in humans. Data from animal models are still very complex, and the human embryology is still poorly understood. Oral clefts and syndromic forms of tooth agenesis may be the best models for isolated tooth agenesis. In the future, a precise description of the missing teeth in syndromes involving tooth agenesis may be useful.
authors.affiliation: Department of Pediatrics ML 2182, The University of Iowa, Iowa City, IA 52242, USA. alexandre-vieira@uiowa.edu
authors.forename: A R
authors.initials: AR
authors.lastname: Vieira
mesh_terms: D000818:Animals; D000848:Anodontia / Q000150:complications / Q000235:genetics*; D002971:Cleft Lip / Q000150:complications / Q000235:genetics; D002972:Cleft Palate / Q000150:complications / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D051957:MSX1 Transcription Factor; D051379:Mice; D008957:Models, Genetic; D008963:Molar / Q000002:abnormalities; D051764:PAX9 Transcription Factor; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; D014157:Transcription Factors