Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia

In 2016, researchers discovered a new missense mutation in the EDA gene, specifically a G > A transition at nucleotide position c.866, leading to an arginine to histidine substitution at p.Arg289His, in two brothers with oligodontia and mild ectodermal dysplasia (ED) symptoms, as well as in six relatives. This mutation was predicted to be pathogenic and to impair protein stabilization, which could contribute to the development of oligodontia and a mild ED phenotype. Although synonymous variants were found in the EDAR and EDARADD genes, they were not linked to the tooth agenesis. The study also noted that no mutations were found in the WNT10A gene and highlighted the importance of orthodontists recognizing subtle signs of ED in patients with tooth agenesis. The research was supported by the German Orthodontic Society and followed ethical standards, including obtaining informed consent from all participants.