Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. Issue 4 (April 1998)

• Record Type: Journal Article
• Authors: Porteous, M E; Strain, L; Logie, L J; Herd, R M; Benton, E C
• Is Part Of: Journal of medical genetics. Volume 35:Issue 4(1998)
• Page Start: 336
• Page End: 337
• Publication Date: 1998-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.35.4.336
• Languages: English
• ISSNs: 1468-6244

Abstract

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.