title: Refinement of the GINGF3 locus for hereditary gingival fibromatosis.
abstract: Hereditary gingival fibromatosis (HGF) is a rare, clinically variable disorder characterized by slowly progressive fibrous overgrowth of the gingiva. Four gene loci have been mapped for autosomal dominant non-syndromic HGF (adHGF). The molecular basis of adHGF remains largely unknown, with only a single SOS1 gene mutation identified so far at the gingival fibromatosis 1 (GINGF1) locus in one family. We identified an adHGF family with ten affected individuals in whom onset of gingival fibromatosis concurred with the eruption of the primary teeth. In order to identify the molecular basis in this family, we tested for linkage of the disease to known adHGF loci. A maximal multipoint logarithm of the odds score of 3.91 was obtained with marker D2S390 (theta = 0) at the GINGF3 locus on chromosome 2p23.3-p22.3, and linkage to other known loci was excluded. Sequencing two candidate genes, ALK and C2orf18, and a single nucleotide polymorphisms array analysis did not reveal a mutation or copy number variation in a patient from the family. We refined the GINGF3 locus to a 6.56-cM, 8.27-Mb region containing 112 known and hypothetical genes, and our data and a search of the literature suggest that GINGF3 is a major adHGF locus.
authors.affiliation: Division of Clinical Genetics, Innsbruck Medical University, Schoepfstrasse 41, 6020 Innsbruck, Austria.
authors.forename: Michael
authors.initials: M
authors.lastname: Pampel
authors.forename: Sandra
authors.initials: S
authors.lastname: Maier
authors.forename: Alfons
authors.initials: A
authors.lastname: Kreczy
authors.forename: Helga
authors.initials: H
authors.lastname: Weirich-Schwaiger
authors.forename: Gerd
authors.initials: G
authors.lastname: Utermann
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Janecke
mesh_terms: D005260:Female; D005351:Fibromatosis, Gingival / Q000235:genetics* / Q000473:pathology; D008040:Genetic Linkage; D056426:Genetic Loci; D006801:Humans; D008297:Male; D010375:Pedigree