Conflict of interest: none declared.
One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex
Article first published online: 13 NOV 2009
© 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 34, Issue 8, pages e957–e961, December 2009
How to Cite
Tang, H. Y., Du, W. D., Cui, Y., Fan, X., Quan, C., Fang, Q. Y., Zhou, F. S., Yao, F. M., Wang, J. F., Yang, S. and Zhang, X. (2009), One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex. Clinical and Experimental Dermatology, 34: e957–e961. doi: 10.1111/j.1365-2230.2009.03703.x
- Issue published online: 13 NOV 2009
- Article first published online: 13 NOV 2009
- Accepted for publication 3 July 2009
Epidermolysis bullosa simplex (EBS) is a group of inherited skin diseases, characterized by the formation of intraepidermal blisters. We performed genetic analysis of the keratin 5 (KRT5) gene in two Chinese pedigrees. One novel missense mutation was identified in a patient with sporadic EBS (general, non-Dowling–Meara). Sequence analysis showed a heterozygous T > A transition at nucleotide 1730 of KRT5, changing phenylalanine (Phe) to tyrosine (Tyr) at position 577 of the keratin 5 (K5). In addition, two recurrent mutations c.1649delG (p.Gly550AlafsX77) and c.508G > (p.Glu170Lys) in KRT5 were identified in Chinese patients with mottled pigmentation EBS and localized EBS, respectively. None of the mutations were found in any unaffected family members or in an additional 100 unrelated control samples. These results suggest that these mutations are pathogenic and might be one of the potential causes of EBS in these Chinese patients.