title: Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.
abstract: Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement (MIM 308800). We have studied a large British family with KFSD using polymorphic markers from Xp21-p23 and obtained a lod score of 2.056 at theta=0 with markers proximal and distal to the KFSD candidate region Xp22.13-p22.2 identified by Oosterwijk et al. Our data confirm the linkage to Xp22.13-p22.2 observed in the previously reported Dutch family, but fail to narrow the candidate interval for the KFSD locus.
authors.affiliation: Human Genetics Unit, Western General Hospital, Edinburgh, UK.
authors.forename: M E
authors.initials: ME
authors.lastname: Porteous
authors.forename: L
authors.initials: L
authors.lastname: Strain
authors.forename: L J
authors.initials: LJ
authors.lastname: Logie
authors.forename: R M
authors.initials: RM
authors.lastname: Herd
authors.forename: E C
authors.initials: EC
authors.lastname: Benton
mesh_terms: D007644:Darier Disease / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D014960:X Chromosome