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

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

25 Citaten (Scopus)

Samenvatting

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.

Originele taal-2English
Pagina's (van-tot)520-524
Aantal pagina's5
TijdschriftHUMAN GENETICS
Volume100
Nummer van het tijdschrift5-6
StatusPublished - okt-1997

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