EDA gene mutations underlie non-syndromic oligodontia.

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.

• Authors: S Song, D Han, H Qu, Y Gong, H Wu, X Zhang, N Zhong, H Feng
• Journal: Journal of dental research (J Dent Res) Vol. 88 Issue 2 Pg. 126-31 (Feb 2009) ISSN: 1544-0591 [Electronic] United States
• PMID: 19278982 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• EDA protein, human
• Ectodysplasins

Topics

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