Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family
- 1 February 2000
- journal article
- research article
- Published by Oxford University Press (OUP) in British Journal of Dermatology
- Vol. 142 (2), 248-252
- https://doi.org/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.Keywords
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