27Sep 2023
Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis

A study on hereditary gingival fibromatosis (HGF) identified double heterozygous pathogenic mutations in the ZNF513 and KIF3C genes, revealing their role in HGF development. ZNF513 was found to regulate KIF3C and SOS1 expression, and the KIF3C mutation activated the PI3K and KCNQ1 potassium channels, influencing gingival fibroblast behaviour via specific pathways.

  • #dentistry

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