A novel variant c.A527G in ITGB4 leads to autosomal dominant epidermolysis bullosa in China
This study confirms the dominant mode of inheritance of the missense <i>ITGB4</i> mutation observed in EB. The novel missense variation c.A527G (D176G) in <i>ITGB4</i> involves a transition from a polar to non-polar amino acid and a decrease in intermolecular hydrogen bonding, which was associated with EB development.
Authors
- Wei Cai (ORCID: https://orcid.org/0009-0003-4233-4738)
- Juyi Li (ORCID: https://orcid.org/0000-0002-5141-4655)
- Hongyu Li
- Yang Gao (ORCID: https://orcid.org/0000-0002-1069-2157)
- Jifa Hu
- Xiawen Yang
- Qiu Tang (ORCID: https://orcid.org/0000-0001-5691-9751)
- Yi Hu
- Peng Cheng
- Yimin He
- Aiping Deng
Institutions
- Hubei Provincial Hospital of Traditional Chinese Medicine (CN)
- Wuhan Union Hospital (CN)
- Huazhong University of Science and Technology (CN)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2026-02-05
- DOI
- https://doi.org/10.3389/fmed.2025.1726208
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00