Hereditary gingival fibromatosis

Definition:

Hereditary gingival fibromatosis (GINGF) is a rare autosomal dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. Four gene loci have been mapped for autosomal dominant GINGF. Although the molecular basis of GINGF remains largely unknown, a SOS1 gene mutation is identified. Recently, it has been reported that REST final-exon-truncating mutations cause GINGF.

References:

[1]. Michael Pampel, et al. Refinement of the GINGF3 locus for hereditary gingival fibromatosis. Eur J Pediatr. 2010 Mar;169(3):327-32. [Content Brief]

[2]. Thomas C Hart, et al. A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am J Hum Genet. 2002 Apr;70(4):943-54. [Content Brief]

[3]. Yavuz Bayram, et al. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 Jul 6;101(1):149-156. [Content Brief]

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