title: 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.affiliation: Department of Medical Genetics, Peking University Health Science Center, Beijing, China.
authors.forename: S
authors.initials: S
authors.lastname: Song
authors.forename: D
authors.initials: D
authors.lastname: Han
authors.forename: H
authors.initials: H
authors.lastname: Qu
authors.forename: Y
authors.initials: Y
authors.lastname: Gong
authors.forename: H
authors.initials: H
authors.lastname: Wu
authors.forename: X
authors.initials: X
authors.lastname: Zhang
authors.forename: N
authors.initials: N
authors.lastname: Zhong
authors.forename: H
authors.initials: H
authors.lastname: Feng
mesh_terms: D019943:Amino Acid Substitution; D000848:Anodontia / Q000235:genetics*; D004252:DNA Mutational Analysis; D053331:Ectodysplasins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins