Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region

Eur J Hum Genet. 1997 May-Jun;5(3):156-60.


Papillon-Lefevre syndrome (PLS) is an autosomal recessive disease which belongs to the palmo-plantar keratoderma (PPK) group. It is characterized by a premature loss of primary and permanent teeth and early onset periodontitis. High consanguinity has been observed in over one-third of PLS families. No candidate genes or gene localizations have been described to date for this disorder. A primary genome-wide search by homozygosity mapping using samples from a large consanguineous family in which 4 siblings were affected by the disease showed homozygosity and linkage in the region of 11q14. Linkage was confirmed in 4 additional families with diverse ethnic and geographic backgrounds, 2 of which were consanguineous. A maximum two-point lod score of 8.19 was obtained for the marker AFM063yg1 (D11S901= for theta = 0. Analysis of recombination events places the gene within a 7-cM interval between AFM063yg1 and AFM269yg9 (D11S4175). No shared haplotype was found for the 5 families analysed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping*
  • Chromosomes, Human, Pair 11 / genetics*
  • Consanguinity
  • DNA / analysis
  • Female
  • Fluorescent Dyes
  • Gene Frequency
  • Genetic Linkage
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Microsatellite Repeats
  • Nucleic Acid Hybridization
  • Papillon-Lefevre Disease / genetics*
  • Pedigree
  • Polymerase Chain Reaction


  • Fluorescent Dyes
  • DNA