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Evidence of Genetic Heterogeneity for Hereditary Gingival FibromatosisDivision of Oral Biology, University of Pittsburgh School of Dental Medicine, 618 Salk Hall, 3501 Terrace St., Pittsburgh, PA 15261, Department of Dentistry, Wake Forest University School of Medicine, Winston-Salem, NC, Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pittsburgh, PA
Department of Periodontics, University of Taubate-Sao Paulo, Brazil
Dcpartment of Oral Pathology, University of Camp in as, Piracicaba, Brazil
Dcpartment of Oral Pathology, University of Camp in as, Piracicaba, Brazil
Division of Oral Biology, University of Pittsburgh School of Dental Medicine, 618 Salk Hall, 3501 Terrace St., Pittsburgh, PA 15261, Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pittsburgh, PA, Cleft Palate-Craniofacial Center, University of Pittsburgh, School of Dental Medicine, Pittsburgh, PA, Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, PA
Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pittsburgh, PA
Department of Periodontics, University of Taubate-Sao Paulo, Brazil
Hereditary Gingival Fibromatosis (HGF) is the most common genetic form of gingival fibromatosis. The condition is most frequently reported to be transmitted as an autosomal-dominant trait, but autosomal-recessive inheritance has also been reported. The clinical presentation of HGF is variable, both in the distribution (number of teeth involved) and in the degree (severity) of expression. It is unknown if the variable clinical expression of HGF in different families is due to variable expression of a common gene mutation, allelic mutations, or non-allelic mutations. The apparently different modes of Mendelian inheritance of HGF suggest genetic heterogeneity. A gene locus for HGF has been localized to a 37-cM genetic interval on chromosome 2p21-p22 (D2S1352, Zmax = 5.10,
Key Words: hereditary gingival fibromatosis • genetic linkage analysis • chromosome 2p • genetic heterogeneity.
Journal of Dental Research, Vol. 79, No. 10,
1758-1764 (2000) This article has been cited by other articles:
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= 0.00) flanked by D2S1788 and D2S441. To evaluate the generality of this linkage, we tested linkage with 9 markers from this candidate region in another large family, segregating for an autosomal-dominant form of generalized HGF, and found no support for linkage with any of these markers. Furthermore, statistical tests of this apparent heterogeneity were highly significant. Analysis of these data provides direct evidence that at least two genetically distinct loci are responsible for autosomal-dominant hereditary gingival fibromatosis. 
