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: CONCLUSION: Our data expand the spectrum of mutations in the KRT5 gene underlying DDD.
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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)
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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
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Topics |
- Abnormalities, Multiple
(genetics)
- China
- Codon, Nonsense
- Exons
- Heterozygote
- Humans
- Introns
- Keratin-5
(genetics)
- Syndrome
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