Sublocalization of the Papillon-Lefevre Syndrome Locus on Ilql4-q21

T. C. Hart, D. W. Bowden, K. A. Ghaffar, W. Wang, C. W. Cutler, I. Cebeci, A. Efeoglu, E. Firatli

Research output: Contribution to journalArticle

48 Scopus citations

Abstract

Papillon-Lefevre syndrome (PLS) is an autosomal recessive form of palmoplantar ectodermal dysplasia, characterized by palmoplantar hyperkeratosis and severe earlyonset 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 Hql4-q21. A maximum two-point logarithm of the odds (LOD) score of 8.24 was obtained for D11S1367 at a recombination fraction of 6 = 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 Hql4-q21 and should help in identification of the gene for PLS. ,

Original languageEnglish (US)
Pages (from-to)134-139
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume79
Issue number2
StatePublished - Sep 1 1998
Externally publishedYes

Keywords

  • Chromosome band llq
  • Linkage
  • Palmoplantar keratoderma
  • Papillon-lefevre syndrome
  • Periodontitis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Hart, T. C., Bowden, D. W., Ghaffar, K. A., Wang, W., Cutler, C. W., Cebeci, I., Efeoglu, A., & Firatli, E. (1998). Sublocalization of the Papillon-Lefevre Syndrome Locus on Ilql4-q21. American Journal of Medical Genetics, 79(2), 134-139.