Open Access

Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa

  • Authors:
    • Yue Yao
    • Kai Yang
    • Ke-Yan Qi
    • Lin-Xi Zeng
    • Guo-Qiang Zhang
  • View Affiliations

  • Published online on: October 21, 2022     https://doi.org/10.3892/etm.2022.11663
  • Article Number: 727
  • Copyright: © Yao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Inherited epidermolysis bullosa (IEB) represents a group of rare genetic dermatoses comprising various phenotypes ranging from severe cutaneous and extracutaneous involvement to mild cutaneous fragility. Pathogenic variants have been identified in at least 20 genes responsible for IEB. In the present study, six cases of epidermolysis bullosa were recruited and subjected to a combination of clinical and genetic analysis. The family history of each case was surveyed. Whole exome sequencing was performed to identify the causative variation. The six patients showed typical EB symptoms. In all cases, WES detected the diagnostic variations of the COL7A1 or DST gene. A total of 10 variants were identified and verified. The findings of the present study further expanded the mutation spectrum of IEB, provided evidence for genetic counseling to the affected families, as well as highlighted the complexity of the pathogenesis of IEB.
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December-2022
Volume 24 Issue 6

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

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Spandidos Publications style
Yao Y, Yang K, Qi K, Zeng L and Zhang G: Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa. Exp Ther Med 24: 727, 2022.
APA
Yao, Y., Yang, K., Qi, K., Zeng, L., & Zhang, G. (2022). Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa. Experimental and Therapeutic Medicine, 24, 727. https://doi.org/10.3892/etm.2022.11663
MLA
Yao, Y., Yang, K., Qi, K., Zeng, L., Zhang, G."Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa". Experimental and Therapeutic Medicine 24.6 (2022): 727.
Chicago
Yao, Y., Yang, K., Qi, K., Zeng, L., Zhang, G."Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa". Experimental and Therapeutic Medicine 24, no. 6 (2022): 727. https://doi.org/10.3892/etm.2022.11663