Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region.
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.
Fischer
J
J
CNRS URA 1922, Généthon, Evry, France. fischer@genethon.fr
Blanchet-Bardon
C
C
Prud'homme
J F
JF
Pavek
S
S
Steijlen
P M
PM
Dubertret
L
L
Weissenbach
J
J
D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003241:Consanguinity; D004247:DNA / Q000032:analysis; D005260:Female; D005456:Fluorescent Dyes; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009693:Nucleic Acid Hybridization; D010214:Papillon-Lefevre Disease / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
D005456:Fluorescent Dyes; D004247:DNA