Case Report: Loss-of-function TRPM4 mutation p.L91Δ implicated in progressive cardiac conduction defect
The new TRPM4 in-frame deletion, p.L91Δ, identified in two unrelated patients with a consistent phenotype, causes a significant decrease in channel expression, leading to its loss of function in the heterologous expression system. These findings further exemplify the role of TRPM4 in genetic cardiac channelopathies.
Authors
- Hugues Abriel (ORCID: https://orcid.org/0000-0003-0465-5138)
- Prakash Arullampalam (ORCID: https://orcid.org/0000-0001-5725-2290)
- E. V. Zaklyazminskaya (ORCID: https://orcid.org/0000-0002-6244-9546)
- A. G. Shestak (ORCID: https://orcid.org/0000-0002-4596-8950)
- Alexandre Bokhobza (ORCID: https://orcid.org/0000-0001-7953-4328)
- Jean‐Sébastien Rougier (ORCID: https://orcid.org/0000-0002-8710-0260)
- Anne-Flore Hämmerli (ORCID: https://orcid.org/0000-0002-6928-5476)
- Daniela Ross‐Kaschitza (ORCID: https://orcid.org/0000-0003-1367-0671)
- Nada El Makhzen
- Jacek Gajek (ORCID: https://orcid.org/0000-0002-0038-1750)
- Jimmy Jyh-Ming Juang
- Can Hasdemir (ORCID: https://orcid.org/0000-0002-4755-9165)
- Biagio Ricciardi
Institutions
- University of Bern (CH)
- Medical University of Silesia (PL)
- Ege University (TR)
- National Research Center for Preventive Medicine (RU)
- National Taiwan University Hospital (TW)
- Russian Scientific Center of Surgery (RU)
- AGH University of Krakow (PL)
Publication Details
- Journal
- Frontiers in Physiology
- Published
- 2025-10-21
- DOI
- https://doi.org/10.3389/fphys.2025.1681438
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Science Foundation
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung