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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 16, 2025; 13(11): 99256
Published online Apr 16, 2025. doi: 10.12998/wjcc.v13.i11.99256
Published online Apr 16, 2025. doi: 10.12998/wjcc.v13.i11.99256
Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report
Yan Yang, Department of Nursing, Tianjin Children’s Hospital, Tianjin 300074, China
Zhi-Wei Guan, Qin-Feng Li, Department of Dermatology, Tianjin Children’s Hospital, Tianjin 300074, China
Author contributions: Yang Y and Guan ZW designed the research study; Yang Y, Guan ZW, and Li QF performed the research; Yang Y, Guan ZW, and Li QF analyzed the data and wrote the manuscript; and all authors have read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the patient for publication of this case report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Qin-Feng Li, Professor, Department of Dermatology, Tianjin Children’s Hospital, No. 225 Machang Road, Hexi District, Tianjin 300074, China.
Received: July 18, 2024
Revised: November 25, 2024
Accepted: December 10, 2024
Published online: April 16, 2025
Processing time: 161 Days and 0.3 Hours
Revised: November 25, 2024
Accepted: December 10, 2024
Published online: April 16, 2025
Processing time: 161 Days and 0.3 Hours
Core Tip
Core Tip: A new frameshift mutation in the COL7A1 gene caused dystrophic epidermolysis bullosa (DEB). Genetic testing of the patient showed a frameshift mutation in the coding region 4047 of the 35th intron of the COL7A1 gene, which was improved after symptomatic drug treatment. Indicating the role of genetic testing in DEB diagnosis and providing clinical data for DEB gene therapy.