Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis

Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis

Abstract Variant transthyretin (ATTRv) amyloidosis is a rare, inherited disorder caused by mutations in the TTR gene, leading to amyloid fibril deposition. The Balearic Islands are a known endemic focus for the NP_000362.1:p.Val50Met (V30M) variant, one of the most prevalent pathogenic mutations. We...

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Main Authors: Marc Ventayol-Guirado, Eugenia Cisneros-Barroso, Maria Antonia Ribot-Sanso, Juan Gonzalez-Moreno, Ines Losada, Tomas Ripoll-Vera, Jaume Pons, Elena Fortuny, Teresa Bosch, Antonio Figuerola, Cristina Descals, Joan Carles Montala, Jorge Alvarez-Rubio, Jessica Hernandez-Rodriguez, Jose Lustre-Rodriguez, Maria Victoria Llull-Alberti, Juan Antonio Jimenez-Barcelo, Victor Jose Asensio-Landa, Laura Torres-Juan, Iciar Martinez-Lopez, Juan Buades-Reines, Damian Heine-Suñer
Format: Article
Language:English
Published: Nature Portfolio 2025-08-01
Series:Scientific Reports
Subjects:
TTR
Variant transthyretin (ATTRv) amyloidosis
Genetic testing
Founder event
V30M
Referral services
Online Access:https://doi.org/10.1038/s41598-025-14707-4
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https://doi.org/10.1038/s41598-025-14707-4

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