Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis

T. C. Hart, A. Stabholz, J. Meyle, L. Shapira, T. E. Van Dyke, Christopher W Cutler, W. A. Soskolne

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

The Papillon-Lefèvre and Haim Munk syndromes are characterized by the presence of both palmoplantar hyperkeratosis (PPK) and severe early onset periodontitis. It is the early onset periodontal disease component that distinguishes these from other more common forms of PPK. It has been proposed that the periodontal disease component may be a casual association in individuals with PPK. Genetic syndromes with palmoplantar keratosis and severe early onset periodontitis may be due to specific bacterial infections in individuals with PPK. Recently, keratin gene mutations have been identified in several conditions typified by palmoplantar keratosis. The present study sought to test the hypothesis that a keratin gene defect similar to those previously identified in other PPK conditions is responsible for the Haim Munk and the Papillon-Lefèvre syndromes. We have performed genetic linkage studies to test for linkage between polymorphic DNA loci within 2 cytokeratin gene families and the disease phenotype in Haim Munk syndrome and Papillon-Lefèvre syndrome. Families with individuals segregating for the Haim Munk syndrome and the Papillon-Lefèvre syndrome were examined to determine disease status, and genotyped for microsatellite DNA markers closely linked to the acidic (type I) and the basic (type II) cytokeratin genes on chromosomes 12 and 17. Genotype data were evaluated for microsatellite allele homozygosity in affected individuals. Results of these preliminary genetic studies suggest that the gene defect in Haim Munk syndrome is not due to a gene defect in either the type I or the type II keratin gene clusters. These findings suggest that Haim Munk syndrome may be genetically distinct from other more common forms of PPK that have been linked to the cytokeratin gene families, and suggest that mutations in genes other than keratin genes are responsible. Additional family studies are needed to confirm these preliminary findings.

Original languageEnglish (US)
Pages (from-to)81-89
Number of pages9
JournalJournal of Periodontal Research
Volume32
Issue number1 PART 2
StatePublished - Jan 1 1997
Externally publishedYes

Fingerprint

Periodontitis
Keratins
Genes
Palmoplantar Keratoderma
Aggressive Periodontitis
Periodontal Diseases
Microsatellite Repeats
Keratin-2
Type I Keratin
Type II Keratin
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 17
Mutation
Genetic Linkage
Multigene Family
Genetic Markers
Bacterial Infections
Alleles
Genotype
Keratosis palmoplantaris with periodontopathia and onychogryposis

Keywords

  • Early onset periodontitis
  • Haim Munk syndrome
  • Keratin
  • Palmoplantar keratosis
  • Papillon-Lefèvre syndrome

ASJC Scopus subject areas

  • Dentistry(all)

Cite this

Hart, T. C., Stabholz, A., Meyle, J., Shapira, L., Van Dyke, T. E., Cutler, C. W., & Soskolne, W. A. (1997). Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. Journal of Periodontal Research, 32(1 PART 2), 81-89.

Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. / Hart, T. C.; Stabholz, A.; Meyle, J.; Shapira, L.; Van Dyke, T. E.; Cutler, Christopher W; Soskolne, W. A.

In: Journal of Periodontal Research, Vol. 32, No. 1 PART 2, 01.01.1997, p. 81-89.

Research output: Contribution to journalArticle

Hart, TC, Stabholz, A, Meyle, J, Shapira, L, Van Dyke, TE, Cutler, CW & Soskolne, WA 1997, 'Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis', Journal of Periodontal Research, vol. 32, no. 1 PART 2, pp. 81-89.
Hart TC, Stabholz A, Meyle J, Shapira L, Van Dyke TE, Cutler CW et al. Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. Journal of Periodontal Research. 1997 Jan 1;32(1 PART 2):81-89.
Hart, T. C. ; Stabholz, A. ; Meyle, J. ; Shapira, L. ; Van Dyke, T. E. ; Cutler, Christopher W ; Soskolne, W. A. / Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. In: Journal of Periodontal Research. 1997 ; Vol. 32, No. 1 PART 2. pp. 81-89.
@article{c641390c62ee4422b213d490356d37e9,
title = "Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis",
abstract = "The Papillon-Lef{\`e}vre and Haim Munk syndromes are characterized by the presence of both palmoplantar hyperkeratosis (PPK) and severe early onset periodontitis. It is the early onset periodontal disease component that distinguishes these from other more common forms of PPK. It has been proposed that the periodontal disease component may be a casual association in individuals with PPK. Genetic syndromes with palmoplantar keratosis and severe early onset periodontitis may be due to specific bacterial infections in individuals with PPK. Recently, keratin gene mutations have been identified in several conditions typified by palmoplantar keratosis. The present study sought to test the hypothesis that a keratin gene defect similar to those previously identified in other PPK conditions is responsible for the Haim Munk and the Papillon-Lef{\`e}vre syndromes. We have performed genetic linkage studies to test for linkage between polymorphic DNA loci within 2 cytokeratin gene families and the disease phenotype in Haim Munk syndrome and Papillon-Lef{\`e}vre syndrome. Families with individuals segregating for the Haim Munk syndrome and the Papillon-Lef{\`e}vre syndrome were examined to determine disease status, and genotyped for microsatellite DNA markers closely linked to the acidic (type I) and the basic (type II) cytokeratin genes on chromosomes 12 and 17. Genotype data were evaluated for microsatellite allele homozygosity in affected individuals. Results of these preliminary genetic studies suggest that the gene defect in Haim Munk syndrome is not due to a gene defect in either the type I or the type II keratin gene clusters. These findings suggest that Haim Munk syndrome may be genetically distinct from other more common forms of PPK that have been linked to the cytokeratin gene families, and suggest that mutations in genes other than keratin genes are responsible. Additional family studies are needed to confirm these preliminary findings.",
keywords = "Early onset periodontitis, Haim Munk syndrome, Keratin, Palmoplantar keratosis, Papillon-Lef{\`e}vre syndrome",
author = "Hart, {T. C.} and A. Stabholz and J. Meyle and L. Shapira and {Van Dyke}, {T. E.} and Cutler, {Christopher W} and Soskolne, {W. A.}",
year = "1997",
month = "1",
day = "1",
language = "English (US)",
volume = "32",
pages = "81--89",
journal = "Journal of Periodontal Research",
issn = "0022-3484",
publisher = "Blackwell Munksgaard",
number = "1 PART 2",

}

TY - JOUR

T1 - Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis

AU - Hart, T. C.

AU - Stabholz, A.

AU - Meyle, J.

AU - Shapira, L.

AU - Van Dyke, T. E.

AU - Cutler, Christopher W

AU - Soskolne, W. A.

PY - 1997/1/1

Y1 - 1997/1/1

N2 - The Papillon-Lefèvre and Haim Munk syndromes are characterized by the presence of both palmoplantar hyperkeratosis (PPK) and severe early onset periodontitis. It is the early onset periodontal disease component that distinguishes these from other more common forms of PPK. It has been proposed that the periodontal disease component may be a casual association in individuals with PPK. Genetic syndromes with palmoplantar keratosis and severe early onset periodontitis may be due to specific bacterial infections in individuals with PPK. Recently, keratin gene mutations have been identified in several conditions typified by palmoplantar keratosis. The present study sought to test the hypothesis that a keratin gene defect similar to those previously identified in other PPK conditions is responsible for the Haim Munk and the Papillon-Lefèvre syndromes. We have performed genetic linkage studies to test for linkage between polymorphic DNA loci within 2 cytokeratin gene families and the disease phenotype in Haim Munk syndrome and Papillon-Lefèvre syndrome. Families with individuals segregating for the Haim Munk syndrome and the Papillon-Lefèvre syndrome were examined to determine disease status, and genotyped for microsatellite DNA markers closely linked to the acidic (type I) and the basic (type II) cytokeratin genes on chromosomes 12 and 17. Genotype data were evaluated for microsatellite allele homozygosity in affected individuals. Results of these preliminary genetic studies suggest that the gene defect in Haim Munk syndrome is not due to a gene defect in either the type I or the type II keratin gene clusters. These findings suggest that Haim Munk syndrome may be genetically distinct from other more common forms of PPK that have been linked to the cytokeratin gene families, and suggest that mutations in genes other than keratin genes are responsible. Additional family studies are needed to confirm these preliminary findings.

AB - The Papillon-Lefèvre and Haim Munk syndromes are characterized by the presence of both palmoplantar hyperkeratosis (PPK) and severe early onset periodontitis. It is the early onset periodontal disease component that distinguishes these from other more common forms of PPK. It has been proposed that the periodontal disease component may be a casual association in individuals with PPK. Genetic syndromes with palmoplantar keratosis and severe early onset periodontitis may be due to specific bacterial infections in individuals with PPK. Recently, keratin gene mutations have been identified in several conditions typified by palmoplantar keratosis. The present study sought to test the hypothesis that a keratin gene defect similar to those previously identified in other PPK conditions is responsible for the Haim Munk and the Papillon-Lefèvre syndromes. We have performed genetic linkage studies to test for linkage between polymorphic DNA loci within 2 cytokeratin gene families and the disease phenotype in Haim Munk syndrome and Papillon-Lefèvre syndrome. Families with individuals segregating for the Haim Munk syndrome and the Papillon-Lefèvre syndrome were examined to determine disease status, and genotyped for microsatellite DNA markers closely linked to the acidic (type I) and the basic (type II) cytokeratin genes on chromosomes 12 and 17. Genotype data were evaluated for microsatellite allele homozygosity in affected individuals. Results of these preliminary genetic studies suggest that the gene defect in Haim Munk syndrome is not due to a gene defect in either the type I or the type II keratin gene clusters. These findings suggest that Haim Munk syndrome may be genetically distinct from other more common forms of PPK that have been linked to the cytokeratin gene families, and suggest that mutations in genes other than keratin genes are responsible. Additional family studies are needed to confirm these preliminary findings.

KW - Early onset periodontitis

KW - Haim Munk syndrome

KW - Keratin

KW - Palmoplantar keratosis

KW - Papillon-Lefèvre syndrome

UR - http://www.scopus.com/inward/record.url?scp=0030632341&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030632341&partnerID=8YFLogxK

M3 - Article

C2 - 9085215

AN - SCOPUS:0030632341

VL - 32

SP - 81

EP - 89

JO - Journal of Periodontal Research

JF - Journal of Periodontal Research

SN - 0022-3484

IS - 1 PART 2

ER -