biostudies-literatureSong SFIC NIH HHS126-31https://www.ebi.ac.uk/biostudies/studies/S-EPMC3317984biostudies-literatureUnknown88(2)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.Journal of dental researchEDA gene mutations underlie non-syndromic oligodontia.PMC3317984D43 TW006176D43 TW06176Zhong NFeng HZhang XSong SQu HHan DGong YWu HfalseEDA gene mutations underlie non-syndromic oligodontia.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.2009-01-01T00:00:00Z2009 Feb2021-02-19T09:14:23Z2019-03-27T00:51:52ZS-EPMC33179841927898210.1177/0022034508328627