Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21

T. C. Hart, D. W. Bowden, K. A. Ghaffar, W. Wang, Christopher W Cutler, I. Cebeci, A. Efeoglu, E. Firatli

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

Papillon-Lefevre syndrome (PLS) is an autosomal recessive form of palmoplantar ectodermal dysplasia, characterized by palmoplantar hyperkeratosis and severe early-onset periodontitis. The presence of severe periodontitis distinguishes PLS from other palmoplantar keratodermas. As part of our efforts to study the genetic basis of periodontitis susceptibility, we performed a genome-wide search to identify major loci for PLS in 44 individuals (14 affected) from 10 consanguineous PLS families. We have identified evidence for linkage of a PLS gene on 11q14-q21. A maximum two- point logarithm of the odds (LOD) score of 8.24 was obtained for D11S1367 at a recombination fraction of θ = 0.00. Multipoint analysis resulted in a LOD score of 10.45 and placed the gene for PLS within a 4-5 cM genetic interval. This genetic interval, flanked by D11S4197 and D11S931, contains more than 50 cDNAs and 200 expressed sequence tags (ESTs). This refinement of the candidate region for a PLS gene is in agreement with other recent reports of linkage for PLS to chromosome 11q14-q21 and should help in identification of the gene for PLS.

Original languageEnglish (US)
Pages (from-to)134-139
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume79
Issue number2
DOIs
StatePublished - Sep 1 1998
Externally publishedYes

Fingerprint

Papillon-Lefevre Disease
Periodontitis
Genes
Palmoplantar Keratoderma
Aggressive Periodontitis
Ectodermal Dysplasia
Expressed Sequence Tags
Genetic Recombination
Complementary DNA
Chromosomes

Keywords

  • Chromosome band 11q
  • Linkage
  • Palmoplantar keratoderma
  • Papillon-Lefevre syndrome
  • Periodontitis

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21. / Hart, T. C.; Bowden, D. W.; Ghaffar, K. A.; Wang, W.; Cutler, Christopher W; Cebeci, I.; Efeoglu, A.; Firatli, E.

In: American Journal of Medical Genetics, Vol. 79, No. 2, 01.09.1998, p. 134-139.

Research output: Contribution to journalArticle

Hart, T. C. ; Bowden, D. W. ; Ghaffar, K. A. ; Wang, W. ; Cutler, Christopher W ; Cebeci, I. ; Efeoglu, A. ; Firatli, E. / Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21. In: American Journal of Medical Genetics. 1998 ; Vol. 79, No. 2. pp. 134-139.
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