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

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 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. [ABSTRACT FROM AUTHOR]