1. Hereditary gingival fibromatosis associated with the missense mutation of the KCNK4 gene.
- Author
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Mariani P, Zhurakivska K, Santoro R, Laino G, Russo D, and Laino L
- Subjects
- Humans, Mutation, Mutation, Missense genetics, Phenotype, Potassium Channels, Syndrome, Fibromatosis, Gingival genetics
- Abstract
Hereditary gingival fibromatosis (HGF) is a rare oral condition that may appear as an isolated entity or as part of a genetic disease or syndrome. Molecular and biochemical mechanisms that trigger this pathologic process are not completely understood. In this article, we present a rare case of hereditary gingival fibromatosis in conjunction with a syndromic phenotype, associated with a rare missense mutation of the KCNK4 gene. This mutation induces a change in the structure of the TRAAK channel belonging to the 2-pore potassium channels. The gain of function promoted by the mutation could represent the pathogenetic basis of gingival fibromatosis., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2021
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