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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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Gingival overgrowth in a a 6-year-old female and b 13-year-old male showing symmetrical gingival hyperplasia. c Severe involvement in a male at age 36 years and d a female proband aged 37 years, 7 years after last surgical intervention
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Fig2: Gingival overgrowth in a a 6-year-old female and b 13-year-old male showing symmetrical gingival hyperplasia. c Severe involvement in a male at age 36 years and d a female proband aged 37 years, 7 years after last surgical intervention

Mentions: Remarkably, the onset of gingival fibromatosis consistently concurred with the eruption of the primary teeth in all affected members of this family. Gingival fibromatosis developed slowly progressive and variably consisted of localized or generalized enlargement of keratinized gingiva and consisted of dense fibrous tissue that feels firm and nodular on palpation (Fig. 2a–d). Gingival excess tissue resulted in periodontal problems. Difficulties in daily oral hygiene and long-term smoking were recorded in patients with most severe findings (Fig. 2c, d). Histological evaluation of specimens from different individuals of the family showed hyperplasia of fibrous tissue characterized by squamous epithelium with elongated rete ridges overlaying dramatically increased cell poor fibrous tissue (Fig. 3). A pseudoepitheliomatous hyperplasia of the squamous epithelium with formation of papillae was seen in severely affected individuals.Fig. 2


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)

Gingival overgrowth in a a 6-year-old female and b 13-year-old male showing symmetrical gingival hyperplasia. c Severe involvement in a male at age 36 years and d a female proband aged 37 years, 7 years after last surgical intervention
© Copyright Policy
Related In: Results  -  Collection

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

Fig2: Gingival overgrowth in a a 6-year-old female and b 13-year-old male showing symmetrical gingival hyperplasia. c Severe involvement in a male at age 36 years and d a female proband aged 37 years, 7 years after last surgical intervention
Mentions: Remarkably, the onset of gingival fibromatosis consistently concurred with the eruption of the primary teeth in all affected members of this family. Gingival fibromatosis developed slowly progressive and variably consisted of localized or generalized enlargement of keratinized gingiva and consisted of dense fibrous tissue that feels firm and nodular on palpation (Fig. 2a–d). Gingival excess tissue resulted in periodontal problems. Difficulties in daily oral hygiene and long-term smoking were recorded in patients with most severe findings (Fig. 2c, d). Histological evaluation of specimens from different individuals of the family showed hyperplasia of fibrous tissue characterized by squamous epithelium with elongated rete ridges overlaying dramatically increased cell poor fibrous tissue (Fig. 3). A pseudoepitheliomatous hyperplasia of the squamous epithelium with formation of papillae was seen in severely affected individuals.Fig. 2

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