New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742‐2A>G

Abstract

AbstractBackgroundEctodermal dysplasias are inherited disorders, which are characterized by congenital defects in two or more ectodermal structures such as skin, sweat glands, hair, nails, teeth, and mucous membranes.MethodHere, we describe a new observation of significant oligodontia in a female patient with the EDA gene variant c.742‐2A>G.ResultsThe results strongly suggest that the EDA gene variant c.742‐2A>G is pathogenic. The oligodontia in the proband was exceptionally severe.ConclusionWe demonstrate that the very rare splice acceptor variant EDA c.742‐2A>G is associated with severe oligodontia even in females. Our study points that this variant is pathogenic. An early identification of this variant is crucial for planning adequate treatment and follow‐up in time by a multidisciplinary team.