SUBLOCALIZATION OF THE PAPILLON-LEFEVRE-SYNDROME LOCUS ON 11Q14-Q21

Papillon-Lefevre syndrome (PLS) is an autosomal recessive form of palm oplantar ectodermal dysplasia, characterized by palmoplantar hyperkera tosis and severe early-onset periodontitis. The presence of severe per iodontitis distinguishes PLS from other palmoplantar keratodermas. As part of our efforts to study the genetic basis of periodontitis suscep tibility, we performed a genome-wide search to identify major loci for PLS in 44 individuals (14 affected) from 10 consanguineous PLS famili es. 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 ob tained for D11S1367 at a recombination fraction of theta = 0.00. Multi point analysis resulted in a LOD score of 10.45 and placed the gene fo r PLS within a 4-5 cM genetic interval. This genetic interval, flanked by D11S4197 and D11S931, contains more than 50 cDNAs and 200 expresse d 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. Am. J. Med. Genet.79: 134-139, 1998. (C) 1998 Wiley-Liss, Inc .