A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus

JOURNAL OF INVESTIGATIVE DERMATOLOGY

卷:114

Article

Terrinoni, A ; Puddu, P ; Didona, B ; De Laurenzi, V ; Candi, E ; Smith, FJD ; McLean, WHI ; Melino, G

关键词: intermediate filaments;    keratin 16;    keratin;    mutation;    palmoplantar keratoderma;   

DOI  :  10.1046/j.1523-1747.2000.00983.x

来源: Elsevier

【 摘 要 】

Palmoplantar keratodermas are a group of heterogeneous diseases characterized by thickening, and marked hyperkeratosis, of the epidermis of the palms and soles. Palmoplantar keratodermas can be divided into four major classes: diffuse, focal, punctate, and palmoplantar ectodermal dysplasias. All forms are genetic diseases inherited as autosomal dominant disorders. We studied a patient exhibiting a localized thickening of the skin in parts of the right palm and the right sole, following Blaschko's lines, that does not fit into any classes already described. We sequenced the keratin 16 cDNA derived from skin biopsy material from affected and non affected palms. The keratin 16 cDNA sequence from lesional epidermis showed a 12 base pair deletion (309-320del), which deletes codons 104-107. The mutation is predicted to delete four amino acids, GGFA, from the V1 domain of the keratin 16 polypeptide, close to the 1A domain. Full-length keratin 16 cDNA sequence derived from the unaffected palm was completely normal, consistent with a postzygotic mutation as is suggested by the mosaicism observed. We defined this new clinical entity, ''unilateral palmoplantar verrucous nevus'', rather than localized or focal epidermolytic palmoplantar keratodermas, as the lesions are present only on one side of the body and follow Blaschko's lines. This study is a report of a mosaic mutation in keratin 16 and also the association of a mutation in the V1 domain of a type I keratin associated with a human disease.

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