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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 / Copyright

    Affiliations: Department of Dermatology, The First Hospital of Hebei Medical University, Shijiazhuang, Hebei 050030, P.R. China, Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, P.R. China
    Copyright: © Yao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 727
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    Published online on: October 21, 2022
       https://doi.org/10.3892/etm.2022.11663
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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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Copy and paste a formatted citation
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
Copy and paste a formatted citation
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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
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