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Updated: Jul 17, 2025
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice
Vivian Reinhold1, Stina Syrjänen2,3, Minna Kankuri-Tammilehto4
1Institute of Biomedicine, University of Turku, Turku, Finland.
Background:
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.
Method:
Here, we describe a new observation of significant oligodontia in a female patient with the EDA gene variant c.742-2A>G.
Results:
The results strongly suggest that the EDA gene variant c.742-2A>G is pathogenic. The oligodontia in the proband was exceptionally severe.
Conclusion:
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.
