Open Access

Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population

  • Authors:
    • Jia Zhang
    • Yu Ding
    • Ming Li
    • Zhirong Yao
    • Yin Zhuang
  • View Affiliations

  • Published online on: October 25, 2019     https://doi.org/10.3892/etm.2019.8130
  • Pages: 4661-4664
  • Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Epidermolysis bullosa simplex, generalized severe (EBS‑gen sev) is one of the major forms of EBS, caused by mutations of the keratin 5 (KRT5) or keratin 14 (KRT14). However, it is rarely reported in the Chinese population. The current study was performed on three unrelated Chinese families with five patients clinically suspicious for distinct stages of EBS. Mutation screening was performed by direct sequencing of the entire coding regions of KRT5 and KRT14 genes. A diagnosis of EBS‑gen sev for patients in these three families was confirmed by revealing missense mutations c.373C>T (p.Arg125Cys), c.374G>T (p.Arg125Leu), and a novel frameshift mutation c.1231delG (p.Glu411Argfs*31) in KRT14. Considering two previously reported cases and the results of the current report, amino acid residue 125 is likely the most frequent hotspot of EBS‑gen sev in the Chinese population. The current study further indicated that the symptoms of EBS‑gen sev patients decline with age.

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December 2019
Volume 18 Issue 6

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Copy and paste a formatted citation
APA
Zhang, J., Ding, Y., Li, M., Yao, Z., & Zhuang, Y. (2019). Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population. Experimental and Therapeutic Medicine, 18, 4661-4664. https://doi.org/10.3892/etm.2019.8130
MLA
Zhang, J., Ding, Y., Li, M., Yao, Z., Zhuang, Y."Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population". Experimental and Therapeutic Medicine 18.6 (2019): 4661-4664.
Chicago
Zhang, J., Ding, Y., Li, M., Yao, Z., Zhuang, Y."Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population". Experimental and Therapeutic Medicine 18, no. 6 (2019): 4661-4664. https://doi.org/10.3892/etm.2019.8130