EDA 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.
Song
S
S
Department of Medical Genetics, Peking University Health Science Center, Beijing, China.
Han
D
D
Qu
H
H
Gong
Y
Y
Wu
H
H
Zhang
X
X
Zhong
N
N
Feng
H
H
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
C506018:EDA protein, human; D053331:Ectodysplasins