title: Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity.
abstract: X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting both skin and eyes. In the two extended KFSD families analysed to date, the gene was mapped to Xp22.13-p22.2. By analyzing several new markers in this region, we were able to narrow the candidate region to a 1-Mb interval between DXS7161 and (DXS7593, DXS7105) in the large Dutch pedigree. In addition, we analyzed 23 markers in Xp21.2-p22.2 in a German family with KFSD. Haplotype and recombination analysis positioned the KFSD gene in this family most likely outside the candidate region on Xp22.13-p22.2. This finding is suggestive for genetic heterogeneity: in this pedigree there is either another locus on the X-chromosome, or KFSD is transmitted here as an autosomal dominant trait with variable expression.
authors.affiliation: Department of Medical Genetics, Antonius Deusinglaan 4, Groningen, The Netherlands. J.C.Oosterwijk@med.rug.nl
authors.forename: J C
authors.initials: JC
authors.lastname: Oosterwijk
authors.forename: G
authors.initials: G
authors.lastname: Richard
authors.forename: M J
authors.initials: MJ
authors.lastname: van der Wielen
authors.forename: E
authors.initials: E
authors.lastname: van de Vosse
authors.forename: W
authors.initials: W
authors.lastname: Harth
authors.forename: L A
authors.initials: LA
authors.lastname: Sandkuijl
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
mesh_terms: D002675:Child, Preschool; D002874:Chromosome Mapping; D007644:Darier Disease / Q000235:genetics*; D018900:Dinucleotide Repeats; D005260:Female; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D005858:Germany; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011995:Recombination, Genetic; D014960:X Chromosome / Q000235:genetics
chemical_list: D005819:Genetic Markers