Genetic heterogeneity of gingival fibromatosis on chromosome 2p
Vandana Shashia, Debora Pallosb, Mark J Pettenatia, Jose R Cortellib, Jean-Pierre Frynsc, Christopher von Kap-Herra, Thomas C Harta
a Department
of Pediatrics, Section of Medical Genetics, Wake Forest University
School of Medicine, Medical Center Boulevard, Winston-Salem, North
Carolina, 27157, USA, b Department of
Periodontics, University of Taubate, Sao Paulo, Brazil, c Centre for Human Genetics,
University Hospital, Leuven, Belgium
Correspondence to: Dr Shashi.
Revised version received 30 March 1999;
Accepted for publication 30
April 1999
Gingival fibromatosis (GF) occurs in several genetic
forms as a simple Mendelian trait, in malformation syndromes, and in some chromosomal disorders. Specific genes responsible for GF have not
been identified. An autosomal dominant form of hereditary gingival
fibromatosis (HGF, MIM 135300) was recently mapped to chromosome 2p21
in a large Brazilian family and there was an earlier report of GF in a
boy with a cytogenetic duplication involving 2p13
p21. We thus
hypothesised that a common gene locus may be responsible for GF in both
the Brazilian family and the boy with the chromosome 2p duplication. We
performed additional genetic linkage studies on the Brazilian family
and molecular cytogenetic studies on the patient with the cytogenetic
duplication to correlate more precisely the genetic interval of the HGF
phenotype with the duplicated 2p interval. Additional linkage analysis
of new family members resulted in refinement of the candidate region for HGF to an 8 Mb region. Molecular cytogenetic analysis of the 2p13p21 duplication associated with GF showed that the duplicated region was proximal to the candidate interval for HGF. Thus, our results support the presence of two different gene loci on chromosome 2p that are involved in GF.
Keywords: gingival fibromatosis; chromosome duplication; chromosome 2
© 1999 by J Med Genet
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