Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred
This is the first report of a native Calabrian family carrying this variant, previously unreported in this region, where p.Phe84Leu was considered the only endemic <i>TTR</i> mutation. Our findings expand the mutational landscape of ATTRv in Southern Italy and highlight the presence of p.Val142Ile in a previously unrecognized geographic area. These results reinforce the importance of including <i>TTR</i> sequencing in the work-up of unexplained cardiomyopathy, particularly in Southern Italy, where atypical variants may be emerging.
Authors
- Fernanda Fabiani
- Francesco Trapasso (ORCID: https://orcid.org/0000-0001-9098-3191)
- Rodolfo Iuliano (ORCID: https://orcid.org/0000-0002-8524-7402)
- Francesca Dinatolo
- Adele Dattola
- Radha Procopio (ORCID: https://orcid.org/0000-0001-7141-2123)
- Rosario Amato (ORCID: https://orcid.org/0000-0001-7162-1099)
- Emma Colao (ORCID: https://orcid.org/0000-0001-5451-593X)
- Lucia D’Antona
- Giuseppe Viglietto (ORCID: https://orcid.org/0000-0003-2327-7515)
- Valentina Rocca (ORCID: https://orcid.org/0000-0002-8331-5723)
- Elisa Lo Feudo
Institutions
- Magna Graecia University (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-08-14
- DOI
- https://doi.org/10.3390/genes16080960
- Citations
- 1
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Regione Calabria