Premium
Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family
Author(s) -
Lamartine J.,
Laoudj D.,
BlanchetBardon C.,
Kibar Z.,
Soularue P.,
Ridoux V.,
Dubertret L.,
Rouleau G.A.,
Waksman G.
Publication year - 2000
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.2000.03292.x
Subject(s) - pedigree chart , haplotype , genetics , locus (genetics) , ectodermal dysplasia , lod score , genetic linkage , hyperkeratosis , biology , gene mapping , chromosome , gene , genotype
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.