A novel heterozygous nonsense mutation of keratin 5 in a chinese family with Dowling–Degos disease

Abstract

Background  Dowling–Degos disease (DDD; MIM 179850) is an autosomal dominant genodermatosis caused by mutations in keratin 5 gene (KRT5). KRT5 is specifically expressed in basal layer of epidermis and plays an important role in protecting epithelial cells from mechanical and non-mechanical stresses.


Objective  We analysed the molecular basis of DDD in a Chinese family.


Methods  Genomic DNA of the Chinese DDD family and a matched control cohort was isolated according to standard techniques. All exons of the KRT5 gene and adjacent exon–intron border sequences were amplified using PCR and directly sequenced.


Results  We ...

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