Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family

Br J Dermatol. 2000 Feb;142(2):248-52. doi: 10.1046/j.1365-2133.2000.03292.x.

Abstract

Hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder characterized by nail dystrophy, alopecia and palmoplantar hyperkeratosis, which maps to chromosome 13q11-q12.1. We confirmed linkage of HED to this region in a large French family. To define the critical region for HED, detailed haplotypes were constructed with new pericentromeric polymorphic markers. A recombination event in the family indicates that the HED locus maps centromeric to D13S1832. Our French family does not share a common haplotype with other pedigrees previously published (particularly French-Canadian), indicating that the mutations in these families are likely to be of different origin.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 13*
  • Ectodermal Dysplasia / genetics*
  • Female
  • Genotype
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Mutation*
  • Pedigree