title: The role of MSX1 in human tooth agenesis.
abstract: MSX1 has a critical role in craniofacial development, as indicated by expression assays and transgenic mouse phenotypes. Previously, MSX1 mutations have been identified in three families with autosomal-dominant tooth agenesis. To test the hypothesis that MSX1 mutations are a common cause of congenital tooth agenesis, we screened 92 affected individuals, representing 82 nuclear families, for mutations, using single-strand conformation analysis. A Met61Lys substitution was found in two siblings from a large family with autosomal-dominant tooth agenesis. Complete concordance of the mutation with tooth agenesis was observed in the extended family. The siblings have a pattern of severe tooth agenesis similar that in to previous reports, suggesting that mutations in MSX1 are responsible for a specific pattern of inherited tooth agenesis. Supporting this theory, no mutations were found in more common cases of incisor or premolar agenesis, indicating that these have a different etiology.
authors.affiliation: Department of Orthodontics, University of Iowa, 140 EMRB, Iowa City 52242, USA. Andrew-Lidral@uiowa.edu
authors.forename: A C
authors.initials: AC
authors.lastname: Lidral
authors.forename: B C
authors.initials: BC
authors.lastname: Reising
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D000848:Anodontia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005799:Genes, Dominant; D005801:Genes, Homeobox; D008040:Genetic Linkage; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051957:MSX1 Transcription Factor; D008875:Middle Aged; D020125:Mutation, Missense; D009805:Odontogenesis / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D014157:Transcription Factors
chemical_list: D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; D014157:Transcription Factors