Abstract
Papillon-Lefèvre 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 AFM063ygl (D11S901= for Θ = 0. Analysis of recombination events places the gene within a 7-cM interval between AFM063ygl and AFM269yg9 (D11S4175). No shared haplotype was found for the 5 families analysed.
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Acknowledgements
We wish to acknowledge the essential technical contributions of Armelle Faure and Maud Petit. We are especially grateful to Susan Cure who helped in writing the manuscript, to Cécile Fizames for informatics expertise, and to Roland Heilig for helpful discussion. We wish also to thank Robert Manaranche and AFM for supporting our work.
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Fischer, J., Blanchet-Bardon, C., Prud’homme, JF. et al. Mapping of Papillon-Lefèvre Syndrome to the Chromosome 11q14 Region. Eur J Hum Genet 5, 156–160 (1997). https://doi.org/10.1007/BF03405893
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DOI: https://doi.org/10.1007/BF03405893
