Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.
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.
Porteous
M E
ME
Human Genetics Unit, Western General Hospital, Edinburgh, UK.
Strain
L
L
Logie
L J
LJ
Herd
R M
RM
Benton
E C
EC
D007644:Darier Disease / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D014960:X Chromosome