Keratin-9 gene mutation in a family with epidermolytic palmoplantar keratoderma.
BACKGROUND
Epidermolytic palmoplantar keratoderma is an autosomal dominant inherited disorder of keratinization.


METHODS
We studied five members of a Jewish family with epidermolytic palmoplantar keratoderma. Genomic DNA was extracted from leucocytes, and exon 1 of the keratin 9 gene was amplified using polymerase chain reaction techniques.


RESULTS
The mutation was found in exon 1 of the keratin 9 gene in codon 160.


CONCLUSIONS
Like most of the other families with clinical features of epidermolytic palmoplantar keratoderma the mutation is found in exon 1 of the keratin 9 gene.
Amichai
B
B
Department of Dermatology, Huzot Clinic of Kupat Holim, Ashkelon, Israel.
Karpati
M
M
Goldman
B
B
Peleg
L
L
D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics*; D007633:Keratins / Q000032:analysis / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods
D007633:Keratins