title: Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21.
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 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.
authors.affiliation: Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157-1093, USA. thart@bgsm.edu
authors.forename: T C
authors.initials: TC
authors.lastname: Hart
authors.forename: D W
authors.initials: DW
authors.lastname: Bowden
authors.forename: K A
authors.initials: KA
authors.lastname: Ghaffar
authors.forename: W
authors.initials: W
authors.lastname: Wang
authors.forename: C W
authors.initials: CW
authors.lastname: Cutler
authors.forename: I
authors.initials: I
authors.lastname: Cebeci
authors.forename: A
authors.initials: A
authors.lastname: Efeoglu
authors.forename: E
authors.initials: E
authors.lastname: Firatli
mesh_terms: D002880:Chromosomes, Human, Pair 11; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D008126:Lod Score; D008297:Male; D010214:Papillon-Lefevre Disease / Q000235:genetics*; D010375:Pedigree; D010518:Periodontitis / Q000235:genetics
chemical_list: D005819:Genetic Markers