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 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: L Guo, X Luo, A Zhao, H Huang, Z Wei, L Chen, S Qin, L Shao, J Xuan, G Feng, C Minghua, J Luan, L He, Q Xing
• Journal: Journal of the European Academy of Dermatology and Venereology : JEADV (J Eur Acad Dermatol Venereol) Vol. 26 Issue 7 Pg. 908-10 (Jul 2012) ISSN: 1468-3083 [Electronic] England
• PMID: 21569119 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2011 The Authors. Journal of the European Academy of Dermatology and Venereology © 2011 European Academy of Dermatology and Venereology.

Chemical References

• Codon, Nonsense
• KRT5 protein, human
• Keratin-5

Topics

• Abnormalities, Multiple (genetics)
• China
• Codon, Nonsense
• Exons
• Heterozygote
• Humans
• Introns
• Keratin-5 (genetics)
• Syndrome