Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family.
In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at theta = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.
Oosterwijk
J C
JC
Clinical Genetics Center Utrecht, The Netherlands.
Nelen
M
M
Van Zandvoort
P M
PM
Van Osch
L D
LD
Oranje
A P
AP
Wittebol-Post
D
D
Van Oost
B A
BA
D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D007644:Darier Disease / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D009426:Netherlands; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
D015342:DNA Probes; D004247:DNA