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EDA Gene Mutations Underlie Non-syndromic Oligodontia

¹ Department of Medical Genetics, Peking University Health Science Center, Beijing, China;
² Department of Prosthodontics, Peking University School and Hospital of Stomatology, 22 Zhongguancun Nandajie, Haidian District, Beijing, 100081, China;
³ College of Life Sciences, Peking University, Beijing, China;
⁴ Peking University Center of Medical Genetics, Peking University Health Science Center, Beijing 100083, China; and
⁵ New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA

Correspondence: kqfenghl{at}bjmu.edu.cn and genetomics{at}bjmu.edu.cn

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.

Key Words: EDA gene • oligodontia • mutation • non-syndromic

Journal of Dental Research, Vol. 88, No. 2, 126-131 (2009)
DOI: 10.1177/0022034508328627


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