Gingival fibromatosis is characterized by a slowly progressive benign
enlargement of the oral gingival tissues. The condition results in the
teeth being partially or totally engulfed by keratinized gingiva, cau
sing aesthetic and functional problems. Both genetic and pharmacologic
ally induced forms of gingival fibromatosis are known. The most common
genetic form, hereditary gingival fibromatosis (HGF), is usually tran
smitted as an autosomal dominant trait, although sporadic cases are co
mmon and autosomal recessive inheritance has been reported. The geneti
c basis of gingival fibromatosis is unknown. We identified an extended
family (n = 32) segregating an autosomal dominant form of isolated gi
ngival fibromatosis. Using a genomewide search strategy, we identified
genetic linkage (Z(max) = 5.05, theta = .00) for the HGF phenotype to
polymorphic markers in the genetic region of chromosome 2p21 bounded
by the loci D2S1788 and D2S441. This is the first report of linkage fo
r isolated HGF, and the findings have implications for identification
of the underlying genetic basis of gingival fibromatosis.