title: The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.
abstract: Hidrotic ectodermal dysplasia (HED), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is characterized by hair defects, nail dystrophy and palmoplantar hyperkeratosis. Biophysical and biochemical studies conducted in HED suggested a molecular abnormality of keratins. We tested eight French-Canadian families segregating HED for linkage to microsatellite markers flanking the known keratin genes and were able to exclude linkage to these loci. Therefore, a genome-wide search for the HED gene was initiated. The first lod score above 3.00 was obtained with the marker D13S175 located in the pericentromeric region of chromosome 13q (Zmax = 8.12 at zero recombination). The cumulative lod scores were above 3.00 for six other markers in the region. A multipoint linkage analysis using the markers D13S175, D13S141 and D13S143 gave a maximum lod score of 11.12 at D13S141 with the one-lod-unit support interval spanning a 12.7 cM region which includes D13S175 and D13S141. Haplotype analysis allowed us to establish D13S143 as the telomeric flanking marker for the HED candidate region.
authors.affiliation: Centre for Research in Neurosciences, Montreal General Hospital, Québec, Canada.
authors.forename: Z
authors.initials: Z
authors.lastname: Kibar
authors.forename: V M
authors.initials: VM
authors.lastname: Der Kaloustian
authors.forename: B
authors.initials: B
authors.lastname: Brais
authors.forename: V
authors.initials: V
authors.lastname: Hani
authors.forename: F C
authors.initials: FC
authors.lastname: Fraser
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D002503:Centromere; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree