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Keratin‐9 gene mutation in a family with epidermolytic palmoplantar keratoderma
Author(s) -
Amichai B,
Karpati M,
Goldman B,
Peleg L
Publication year - 2002
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1046/j.1468-3083.2002.00426.x
Subject(s) - palmoplantar keratoderma , exon , keratin 6a , genetics , mutation , epidermolytic hyperkeratosis , keratin , gene mutation , gene , keratoderma , genomic dna , medicine , biology , hyperkeratosis , intermediate filament , cytoskeleton , cell
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.