A1 Refereed original research article in a scientific journal
New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A & gt;G
Authors: Reinhold Vivian, Syrjänen Stina, Kankuri-Tammilehto Minna
Publisher: WILEY
Publication year: 2023
Journal: Molecular Genetics and Genomic Medicine
Journal name in source: MOLECULAR GENETICS & GENOMIC MEDICINE
Journal acronym: Mol Genet Genomic Med
Article number: e2275
Volume: 11
Issue: 12
Number of pages: 6
ISSN: 2324-9269
eISSN: 2324-9269
DOI: https://doi.org/10.1002/mgg3.2275
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/181014619
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.
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