Genetic linkage of Meleda disease to chromosome 8qter

Abstract

Meleda disease (mal de Meleda) MIM *248300 is an autosomal recessive disorder, clinically characterised by transgressive palmoplantar keratoderma, hyperhidrosis and perioral erythema. It was first described on the Adriatic island of Meleda, where it was relatively common. The prevalance in the general population is estimated to be 1 in 100 000. Linkage analysis of two large consanguineous families from Algeria, including 10 affected individuals, showed strong evidence for localisation of Meleda disease to chromosome 8qter with a maximum two-point lod score for D8S1751 of 8.21 at Θ = 0. Analysis of homozygosity regions and recombination events places the the gene in a region of at least 3 cM, telomeric to D8S1727. A common haplotype was observed in the two families, suggesting a founder effect.

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Correspondence to Judith Fischer.

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Fischer, J., Bouadjar, B., Heilig, R. et al. Genetic linkage of Meleda disease to chromosome 8qter. Eur J Hum Genet 6, 542–547 (1998). https://doi.org/10.1038/sj.ejhg.5200254

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Keywords

  • mal de Meleda
  • Meleda disease
  • keratosis palmoplantaris transgrediens
  • chromosome 8qter
  • homozygosity mapping

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