title: Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family.
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.
authors.affiliation: Laboratoire Génétique des Maladies Dermatologiques (EA 2541), Université d'Evry-Val d'Essonne et Genethon, France.
authors.forename: J
authors.initials: J
authors.lastname: Lamartine
authors.forename: D
authors.initials: D
authors.lastname: Laoudj
authors.forename: C
authors.initials: C
authors.lastname: Blanchet-Bardon
authors.forename: Z
authors.initials: Z
authors.lastname: Kibar
authors.forename: P
authors.initials: P
authors.lastname: Soularue
authors.forename: V
authors.initials: V
authors.lastname: Ridoux
authors.forename: L
authors.initials: L
authors.lastname: Dubertret
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: G
authors.initials: G
authors.lastname: Waksman
mesh_terms: D002882:Chromosomes, Human, Pair 13; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree