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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.

SUBMITTER: Porteous ME

PROVIDER: S-EPMC1051286 | biostudies-literature | 1998 Apr

REPOSITORIES: biostudies-literature

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Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.

Porteous M E ME Strain L L Logie L J LJ Herd R M RM Benton E C EC

Journal of medical genetics 19980401 4

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 interv ...[more]

PMID: 9598732

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