%0 Case Reports
%T New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>G.
%A Reinhold V
%A Syrjänen S
%A Kankuri-Tammilehto M
%J Mol Genet Genomic Med
%V 11
%N 12
%D 2023 Dec 4
%M 37665136
%F 2.473
%R 10.1002/mgg3.2275
%X <B>BACKGROUND: </B>Ectodermal 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.<BR><B>METHODS: </B>Here, we describe a new observation of significant oligodontia in a female patient with the EDA gene variant c.742-2A>G.<BR><B>RESULTS: </B>The results strongly suggest that the EDA gene variant c.742-2A>G is pathogenic. The oligodontia in the proband was exceptionally severe.<BR><B>CONCLUSIONS: </B>We 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.