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.
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.
Authors: F Buket Basmanav; Ana-Maria Oprisoreanu; Sandra M Pasternack; Holger Thiele; Günter Fritz; Jörg Wenzel; Leopold Größer; Maria Wehner; Sabrina Wolf; Christina Fagerberg; Anette Bygum; Janine Altmüller; Arno Rütten; Laurent Parmentier; Laila El Shabrawi-Caelen; Christian Hafner; Peter Nürnberg; Roland Kruse; Susanne Schoch; Sandra Hanneken; Regina C Betz Journal: Am J Hum Genet Date: 2014-01-02 Impact factor: 11.025
Authors: Shyam Verma; Sandra M Pasternack; Arno Rütten; Thomas Ruzicka; Regina C Betz; Sandra Hanneken Journal: Indian J Dermatol Date: 2014-09 Impact factor: 1.494
Authors: A K Reisenauer; S V Wordingham; J York; E W J Kokkonen; W H I Mclean; N J Wilson; F J D Smith Journal: Br J Dermatol Date: 2014-06 Impact factor: 9.302