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Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region.
CNRS URA 1922, Généthon, Evry, France. fischer@genethon.fr
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.
PMID: 9272739 [PubMed - indexed for MEDLINE]
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Cited by 6 PubMed Central articles
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ReviewMendelian diseases and conditions in Croatian island populations: historic records and new insights.
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Croat Med J. 2006 Aug; 47(4):543-52.
[Croat Med J. 2006]
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Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome.
Selvaraju V, Markandaya M, Prasad PV, Sathyan P, Sethuraman G, Srivastava SC, Thakker N, Kumar A.
BMC Med Genet. 2003 Jul 12; 4:5. Epub 2003 Jul 12.
[BMC Med Genet. 2003]
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Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.
Zhang Y, Lundgren T, Renvert S, Tatakis DN, Firatli E, Uygur C, Hart PS, Gorry MC, Marks JJ, Hart TC.
J Med Genet. 2001 Feb; 38(2):96-101.
[J Med Genet. 2001]
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