ArticleMolecular genetics & genomic medicine2023
New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>G.
Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 2 citations in OpenAlex.
- The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.Genes · 2026Review
- Hair Evaluation in Orthodontic Patients with Oligodontia.Diagnostics (Basel, Switzerland) · 2024Article
- New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>G.Molecular genetics & genomic medicine · 2023Article
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3 authors at 2 institutions in 1 country.
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Abstract
backgroundEctodermal 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.
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