Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia

Orthod Craniofac Res. 2008 Feb;11(1):24-31. doi: 10.1111/j.1601-6343.2008.00410.x.


Objectives: To describe the dentofacial phenotypes of three sisters with severe non-syndromic oligodontia, to report on the mutation analysis in three genes, previously shown to cause various phenotypes of non-syndromic oligodontia and in two other suspected genes. Based on the phenotypes in the pedigree of this family, the different possible patterns of transmission are discussed.

Methods: Anamnestic data and a panoramic radiograph were taken to study the phenotype of the three sisters and their first-degree relatives. Blood samples were also taken to obtain their karyotypes and DNA samples. Mutational screening was performed for the MSX1, PAX9, AXIN2, DLX1 and DLX2 genes.

Results: The probands' pedigree showed evidence for a recessive or multifactorial inheritance pattern. Normal chromosomal karyotypes were found and - despite the severe oligodontia present in all three sisters - no mutation appeared to be present in the five genes studied so far in these patients.

Conclusions: In the three sisters reported, their common oligodontia phenotype is not caused by mutations in the coding regions of MSX1, PAX9, AXIN2, DLX1 or DLX2 genes, but genetic factors most probably play a role as all three sisters were affected. Environmental and epigenetic factors as well as genes regulating odontogenesis need further in vivo and in vitro investigation to explain the phenotypic heterogeneity and to increase our understanding of the odontogenic processes.

Publication types

  • Case Reports

MeSH terms

  • Anodontia / blood
  • Anodontia / diagnostic imaging
  • Anodontia / genetics*
  • Avian Proteins / blood
  • Avian Proteins / genetics
  • Axin Protein
  • Child
  • Child, Preschool
  • Cytoskeletal Proteins / blood
  • Cytoskeletal Proteins / genetics
  • Female
  • Genotype
  • Homeodomain Proteins / blood
  • Homeodomain Proteins / genetics
  • Humans
  • Karyotyping / methods
  • MSX1 Transcription Factor / blood
  • MSX1 Transcription Factor / genetics
  • PAX9 Transcription Factor / blood
  • PAX9 Transcription Factor / genetics
  • Phenotype
  • Radiography
  • Siblings
  • Tooth Abnormalities / blood
  • Tooth Abnormalities / diagnostic imaging
  • Tooth Abnormalities / genetics*
  • Transcription Factors / blood
  • Transcription Factors / genetics


  • AXIN2 protein, human
  • Avian Proteins
  • Axin Protein
  • Cytoskeletal Proteins
  • Distal-less homeobox proteins
  • Homeodomain Proteins
  • MSX1 Transcription Factor
  • PAX9 Transcription Factor
  • PAX9 protein, human
  • Transcription Factors
  • Hbox 7 protein, Gallus gallus