A COMMON KERATIN-5 GENE MUTATION IN EPIDERMOLYSIS-BULLOSA SIMPLEX WEBER-COCKAYNE

JOURNAL OF INVESTIGATIVE DERMATOLOGY

卷:104

Article

EHRLICH, P ; SYBERT, VP ; SPENCER, A ; STEPHENS, K

关键词: INTERMEDIATE;    FILAMENTS;    BLISTERING;    EPIDERMAL;    DIAGNOSIS;   

DOI  :  10.1111/1523-1747.ep12607050

来源: Elsevier

【 摘 要 】

The Weber-Cockayne subtype of epidermolysis bullosa simplex is an inherited skin-fragility disorder characterized by basal keratinocyte lysis and epidermal blistering confined primarily to the hands and feet. The disorder results from a mutation in either the keratin 5 or keratin 14 gene, which encode the peptide components of the obligate heterodimeric keratin intermediate filaments of the basal cell, We have determined that a T --> G substitution mutation in keratin 5, which results in a Ile --> Ser change at codon 161, is common among patients with the Weber-Cockayne disease variant, accounting for six of 13 cases tested. The observed high frequency of this mutation may result from either a mutational hot spot or a founder effect. The potential utility of this common mutation in confirming disease status in some at-risk individual is discussed.

【 授权许可】

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