Characterization of a Splice-Altering Variant in <i>SCN5A</i> Associated With Brugada Syndrome ― Insights Into Splice Error Correction ―
We confirmed a splice site alteration by SCN5A c.1338G>A and propose extended use of SpliceAI for screening a target genomic region. The attempts to correct mis-splicing near the canonical splice site were not entirely successful, so further development of technology is awaited.
Authors
- Yuichi Sawayama (ORCID: https://orcid.org/0000-0002-9409-0056)
- Masatoshi Hagiwara (ORCID: https://orcid.org/0000-0003-1193-7571)
- Minoru Horie (ORCID: https://orcid.org/0000-0002-9029-2339)
- Ryo Kurosawa (ORCID: https://orcid.org/0000-0002-6710-9989)
- Seiko Ohno (ORCID: https://orcid.org/0000-0003-1209-8896)
- Koichi Kato (ORCID: https://orcid.org/0000-0002-6125-0789)
- Yoshihisa Nakagawa (ORCID: https://orcid.org/0000-0002-9411-9314)
- Takeru Makiyama (ORCID: https://orcid.org/0000-0002-9471-5335)
- Hideyuki Jinzai
- Masahiko Ajiro (ORCID: https://orcid.org/0000-0002-7079-4788)
- Ryotaro Kida
Institutions
- Shiga University of Medical Science (JP)
- Kyoto University (JP)
- National Cerebral and Cardiovascular Center (JP)
Publication Details
- Journal
- Circulation Journal
- Published
- 2025-10-16
- DOI
- https://doi.org/10.1253/circj.cj-25-0447
- Citations
- 1
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science