Genetic linkage of Meleda disease to chromosome 8qter

Meleda disease (mal de Meleda) MIM *248300 is an autosomal recessive disord er, clinically characterised by transgressive palmoplantar keratoderma, hyp erhidrosis and perioral erythema. It was first described on the Adriatic is land of Meleda, where it was relatively common. The prevalance in the gener al population is estimated to be 1 in 100000. Linkage analysis of two large consanguineous families from Algeria, including 10 affected individuals, s howed strong evidence for localisation of Meleda disease to chromosome 8qte r with a maximum two-point lod score for D8S1751 of 8.21 at Theta = 0. Anal ysis of homozygosity regions and recombination events places the the gene i n a region of at least 3 cM, telomeric to D8S1727. A common haplotype was o bserved in the two families, suggesting a founder effect.