Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

JC Oosterwijk*, G Richard, MJR vanderWielen, E van de Vosse, W Harth, LA Sandkuijl, E Bakker, GJB vanOmmen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

25 Citations (Scopus)

Abstract

X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting both skin and eyes, In the two extended KFSD families analysed to date, the gene was mapped to Xp22.13-p22.2. By analyzing several new markers in this region, we were able to narrow the candidate region to a 1-Mb interval between DXS7161 and (DXS7593, DXS7105) in the large Dutch pedigree. In addition, we analyzed 23 markers in Xp21.2-p22.2 in a German family with KFSD, Haplotype and recombination analysis positioned the KFSD gene in this family most likely outside the candidate region on Xp22.13-p22.2. This finding is suggestive for genetic heterogeneity: in this pedigree there is either another locus on the X-chromosome, or KFSD is transmitted here as an autosomal dominant trait with variable expression.

Original languageEnglish
Pages (from-to)520-524
Number of pages5
JournalHUMAN GENETICS
Volume100
Issue number5-6
Publication statusPublished - Oct-1997

Keywords

  • DISEASE
  • REGION
  • KFSD
  • MAP
  • HYP

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