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The role of MSX1 in human tooth agenesis.

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.

Pubmed ID: 12097313 RIS Download

Mesh terms: Adolescent | Adult | Amino Acid Substitution | Anodontia | Child | Child, Preschool | DNA Mutational Analysis | Family Health | Genes, Dominant | Genes, Homeobox | Genetic Linkage | Homeodomain Proteins | Humans | MSX1 Transcription Factor | Middle Aged | Mutation, Missense | Odontogenesis | Polymorphism, Single-Stranded Conformational | Transcription Factors

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Associated grants

  • Agency: NIDCR NIH HHS, Id: P60 DE013076-01S10005
  • Agency: NIDCR NIH HHS, Id: R01 DE014667
  • Agency: NIDCR NIH HHS, Id: R01 DE014667-02
  • Agency: NIDCR NIH HHS, Id: P60 DE013076-03S10005
  • Agency: NIDCR NIH HHS, Id: R01 DE014667-03
  • Agency: NIDCR NIH HHS, Id: P60 DE013076-030005
  • Agency: NIDCR NIH HHS, Id: P60 DE013076-050005
  • Agency: NIDCR NIH HHS, Id: P60 DE013076-010005
  • Agency: NIDCR NIH HHS, Id: P60 DE013076-020005
  • Agency: NIDCR NIH HHS, Id: P60 DE013076-040005
  • Agency: NIDCR NIH HHS, Id: R01 DE014667-04
  • Agency: NIDCR NIH HHS, Id: P60 DE013076
  • Agency: NIDCR NIH HHS, Id: R01 DE014667-01

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