Homozygous <i>JUP</i> variant in Naxos disease: a case report of cardiac and dermatological involvement
We report the case of a 62-year-old man who was diagnosed with arrhythmogenic right ventricular dysplasia (ARVD) at the age of 42 years and who exhibited severe right ventricular involvement requiring an implantable cardioverter–defibrillator. Genetic analysis identified a homozygous JUP variant (c.468G&gt;A), previously reported to be pathogenic but never in the homozygous state, expanding the phenotypic spectrum of this disease and highlighting the importance of genetic screening and long-term follow-up.
Authors
- María Ángeles Espinosa (ORCID: https://orcid.org/0000-0003-1914-8104)
- Javier Herrero (ORCID: https://orcid.org/0000-0002-6728-2570)
- Minia Campos‐Domínguez (ORCID: https://orcid.org/0000-0002-4638-2265)
- M. T. Alonso
- Ana I. Fernández (ORCID: https://orcid.org/0000-0002-1509-5191)
- Luis F. Dı́az (ORCID: https://orcid.org/0000-0002-7127-7037)
Institutions
- Hospital General Universitario Gregorio Marañón (ES)
- Centro de Investigación en Red en Enfermedades Cardiovasculares (ES)
- Hospital Clínico Universitario de Valladolid (ES)
Publication Details
- Journal
- Clinical and Experimental Dermatology
- Published
- 2025-04-15
- DOI
- https://doi.org/10.1093/ced/llaf174
- Primary Topic
- Cellular transport and secretion
- Type
- article
- Field-Weighted Citation Impact
- 0.00