Mem. Porteous et al., KERATOSIS-FOLLICULARIS SPINULOSA DECALVANS - CONFIRMATION OF LINKAGE TO XP22.13-P22.2, Journal of Medical Genetics, 35(4), 1998, pp. 336-337
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-p
23 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 Oo
sterwijk et al. Our data confirm the linkage to Xp22.13-p22.2 observed
in the previously reported Dutch family, but fail to narrow the candi
date interval for the KFSD locus.