Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

Am J Med Genet A. 2011 Jul;155A(7):1616-22. doi: 10.1002/ajmg.a.34045. Epub 2011 May 27.


Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia. Mutation screening was performed using denaturing gradient gel electrophoresis and DNA sequence analysis. Analyses of the coding sequences of the six genes showed sequence alterations predicted to be damaging or potentially damaging in ten of 93 probands (10.8%). Mutations were identified in the EDARADD (n = 1), AXIN2 (n = 3), MSX1 (n = 2), and PAX9 (n = 4) genes, respectively. None of the 10 probands with mutations had other self-reported symptoms from ectodermal tissues. The oral parameters were similar when comparing individuals with and without mutations but a family history of oligodontia was three times more frequent for probands with mutations. EDARADD mutations have previously been reported in a few families segregating hypohidrotic ectodermal dysplasia and this is, to our knowledge, the first report of an EDARADD mutation associated with isolated oligodontia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anodontia / genetics*
  • Axin Protein
  • Cytoskeletal Proteins / genetics*
  • Edar-Associated Death Domain Protein / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease / genetics
  • Humans
  • MSX1 Transcription Factor / genetics*
  • Male
  • Mutation / genetics*
  • PAX9 Transcription Factor / genetics*


  • AXIN2 protein, human
  • Axin Protein
  • Cytoskeletal Proteins
  • EDARADD protein, human
  • Edar-Associated Death Domain Protein
  • MSX1 Transcription Factor
  • MSX1 protein, human
  • PAX9 Transcription Factor
  • PAX9 protein, human