Objectives: Hereditary Gingival Fibromatosis (HGF) is a rare benign fibrous lesion of the gingival tissues presumably caused by single gene defects. The aim of this study was to identify the genetic defect leading to HGF in an extended pedigree.
Materials and methods: We report the clinical features and genetic analysis of a family affected by HGF. A total of 17 subjects were assessed clinically and had blood samples taken for DNA extraction. Multipoint parametric linkage analysis was performed to identify the possible chromosomal location responsible for HGF in this family.
Results: Presence of severe HGF associated with tooth impaction was confirmed for seven members of this three-generation family. Linkage analysis revealed that loci on chromosomes 7, 10, 13, 15, 16, 17, 19 and 20 were linked to this trait. Previously found mutations in the SOS1 and GINGF loci were therefore excluded by this analysis.
Conclusions: This study brings further evidence for genetic heterogeneity of HGF and points towards the existence of different, not-yet-identified genes linked to this condition.
© 2012 John Wiley & Sons A/S.