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

Am J Med Genet. 1998 Sep 1;79(2):134-9. doi: 10.1002/(sici)1096-8628(19980901)79:2<134::aid-ajmg9>;2-q.


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 theta=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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 11*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Humans
  • Keratoderma, Palmoplantar / genetics
  • Lod Score
  • Male
  • Papillon-Lefevre Disease / genetics*
  • Pedigree
  • Periodontitis / genetics


  • Genetic Markers