New recessive dystrophic epidermolysis bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in the fibronectin III-like domain of type VII collagen
In this study, we describe two unrelated cases of a new pathogenic variant in COL7A1, the deletion c.2588-3_2588delCAGC. The variant causes alternative splicing in the preceding exon and results in truncation of the fibronectin III-like domain of C7. This new variant is distinct from previously documented variants as it does not completely exclude exon 19, restores open reading frame of COL7A1 and results in a less severe form of recessive dystrophic epidermolysis bullosa intermediate.
Authors
- Rustam Ziganshin (ORCID: https://orcid.org/0000-0002-7931-519X)
- Anastasiya V. Kosykh (ORCID: https://orcid.org/0000-0002-2908-6499)
- А. А. Кубанов (ORCID: https://orcid.org/0000-0002-7625-0503)
- E. V. Zaklyazminskaya (ORCID: https://orcid.org/0000-0002-6244-9546)
- Ekaterina S. Monchakovskaya
- Н. А. Евтушенко (ORCID: https://orcid.org/0000-0003-1726-1939)
- Nikolay Kondratyev (ORCID: https://orcid.org/0000-0002-5134-6007)
- Nina G. Bozhanova (ORCID: https://orcid.org/0000-0002-2164-5698)
- Nadya G. Gurskaya (ORCID: https://orcid.org/0000-0002-8028-8176)
- М. А. Нефедова (ORCID: https://orcid.org/0000-0003-1141-9352)
- Е. А. Богданова
- Arkadii K. Beilin (ORCID: https://orcid.org/0000-0001-9868-5623)
- Karim A Azimov
- Aleksandra A. Martynova (ORCID: https://orcid.org/0000-0001-5594-1455)
- Arfenya E Karamova
Institutions
- Vanderbilt University (US)
- Pirogov Russian National Research Medical University (RU)
- Institute of Bioorganic Chemistry (RU)
- State Research Center for Dermatovenereology and Cosmetology (RU)
- Mental Health Research Center of Russian Academy of Medical Sciences (RU)
- Genetic Technologies (Australia) (AU)
- Russian Scientific Center of Surgery (RU)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2024-10-11
- DOI
- https://doi.org/10.1093/bjd/ljae389
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00