EDA gene mutations underlie non-syndromic oligodontia

J Dent Res. 2009 Feb;88(2):126-31. doi: 10.1177/0022034508328627.

Abstract

Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia. Notably, all affected males in both families exhibited isolated oligodontia, while almost all female carriers showed a milder or normal phenotype. We hypothesized that the EDA gene could be responsible for sporadic non-syndromic oligodontia in affected males. In this study, we examined 15 unrelated males with non-syndromic oligodontia. Three novel EDA mutations (p.Ala259Glu, p. Arg289Cys, and p.Arg334His) were identified in four individuals (27%). A genetic defect in the EDA gene could result in non-syndromic oligodontia in affected males.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Anodontia / genetics*
  • DNA Mutational Analysis
  • Ectodysplasins / genetics*
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Male
  • Mutation, Missense

Substances

  • EDA protein, human
  • Ectodysplasins