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Refinement of the GINGF3 locus for hereditary gingival fibromatosis.

Pampel M, Maier S, Kreczy A, Weirich-Schwaiger H, Utermann G, Janecke AR - Eur. J. Pediatr. (2009)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Division of Clinical Genetics, Innsbruck Medical University, Schoepfstrasse 41, 6020 Innsbruck, Austria.

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.

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Pedigree and haplotypes of the HGF family under study. The proband, indicated by an arrow, has two affected and two unaffected children with four different partners. Haplotype analysis excluded the SOS1 gene at the GINGF1 locus as the disease gene in this family and narrowed the original 11.42-cM, 13.04-Mb GINGF3 locus, flanked by marker loci D2S2221 and D2S1788, down to the region between markers D2S220 and D2S352
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Fig1: Pedigree and haplotypes of the HGF family under study. The proband, indicated by an arrow, has two affected and two unaffected children with four different partners. Haplotype analysis excluded the SOS1 gene at the GINGF1 locus as the disease gene in this family and narrowed the original 11.42-cM, 13.04-Mb GINGF3 locus, flanked by marker loci D2S2221 and D2S1788, down to the region between markers D2S220 and D2S352

Mentions: We ascertained a German four-generation family with autosomal dominant transmission of HGF without evidence for parental imprinting through a proband. Fifteen family members were examined and nine (five male and four female) were classified as affected (Fig. 1, individuals 12170, 3, 11284, 13230, 11602, 12163, 13232, 11603, and 11606) based on the following criteria: enlarged gingiva covering at least one third of clinical dental crowns of five or more teeth and lack of exposure of affected members to any inducible drugs; individuals were otherwise healthy. The deceased male founder of this family (Fig. 1, individual 1) was reported as having been affected by HGF. Five spouses of family members were also examined, and samples were taken for molecular investigation (individuals 12021, 11378, 13231, 11253, and 11760 in Fig. 1). No samples were available from individuals 1–6 shown in Fig. 1, and their genotypes were inferred and haplotypes were re-constructed (see below).Fig. 1


Refinement of the GINGF3 locus for hereditary gingival fibromatosis.

Pampel M, Maier S, Kreczy A, Weirich-Schwaiger H, Utermann G, Janecke AR - Eur. J. Pediatr. (2009)

Pedigree and haplotypes of the HGF family under study. The proband, indicated by an arrow, has two affected and two unaffected children with four different partners. Haplotype analysis excluded the SOS1 gene at the GINGF1 locus as the disease gene in this family and narrowed the original 11.42-cM, 13.04-Mb GINGF3 locus, flanked by marker loci D2S2221 and D2S1788, down to the region between markers D2S220 and D2S352
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2812425&req=5

Fig1: Pedigree and haplotypes of the HGF family under study. The proband, indicated by an arrow, has two affected and two unaffected children with four different partners. Haplotype analysis excluded the SOS1 gene at the GINGF1 locus as the disease gene in this family and narrowed the original 11.42-cM, 13.04-Mb GINGF3 locus, flanked by marker loci D2S2221 and D2S1788, down to the region between markers D2S220 and D2S352
Mentions: We ascertained a German four-generation family with autosomal dominant transmission of HGF without evidence for parental imprinting through a proband. Fifteen family members were examined and nine (five male and four female) were classified as affected (Fig. 1, individuals 12170, 3, 11284, 13230, 11602, 12163, 13232, 11603, and 11606) based on the following criteria: enlarged gingiva covering at least one third of clinical dental crowns of five or more teeth and lack of exposure of affected members to any inducible drugs; individuals were otherwise healthy. The deceased male founder of this family (Fig. 1, individual 1) was reported as having been affected by HGF. Five spouses of family members were also examined, and samples were taken for molecular investigation (individuals 12021, 11378, 13231, 11253, and 11760 in Fig. 1). No samples were available from individuals 1–6 shown in Fig. 1, and their genotypes were inferred and haplotypes were re-constructed (see below).Fig. 1

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Division of Clinical Genetics, Innsbruck Medical University, Schoepfstrasse 41, 6020 Innsbruck, Austria.

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.

Show MeSH
Related in: MedlinePlus