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

AbstractBackground  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 identified a novel keratin 5 (K5) nonsense mutation designated c.C10T (p.Gln4X) in exon 1 of the KRT5 gene.Conclusion  Our data expand the spectrum of mutations in the KRT5 gene underlying DDD.