2026-04-29T04:09:44Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/236392024-11-28T21:55:50Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc Cisneros-Barroso, Eugenia author Gorram, F author Ribot-Sansó, Maria Antonia author Alarcon, F author Nuel, G author González-Moreno, Juan author Rodríguez, A author Hernandez-Rodriguez, Jessica author Amengual-Cladera, Emilia author Martínez-López, Icíar author Ripoll-Vera, Tomás author Losada-López, Inés author Heine-Suñer, Damián author Plante-Bordeneuve, V author 2023-08-31 Background: Variant transthyretin amyloidosis (A-ATTRv) is an autosomal dominant disease caused by a range of TTR gene variants which entail great phenotypical heterogeneity and penetrance. In Majorca, the A-ATTRv caused by the V30M gene variant (A-ATTRV30M) is the most common. Since asymptomatic carriers are at risk of developing the disease, estimating age of onset is vital for proper management and follow-up. Thus, the aim of this study was to estimate age-related penetrance in ATTRV30M variant carriers from Majorca. Methods: The disease risk among carriers from ATTRV30M families from Majorca was estimated by Non-parametric survival estimation. Factors potentially involved in the disease expression, namely gender and parent of origin were also analysed. Results: A total of 48 heterozygous ATTRV30M families (147 affected patients and 123 were asymptomatic carriers) were included in the analysis. Penetrance progressively increased from 6% at 30 years to 75% at 90 years of age. In contrast to other European populations, we observe a similar risk for both males and females, and no difference of risk according to the parent of origin. Conclusions: In this first study assessing the age-related penetrance of ATTRV30M variant in Majorcan families, no effect of gender or parent of origin was observed. These findings will be helpful for improving management and follow-up of TTR variant carrier individuals. Cisneros-Barroso E, Gorram F, Ribot-Sansó MA, Alarcon F, Nuel G, González-Moreno J, et al. Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca. Orphanet J Rare Dis. 2023 Aug 31;18(1):255. https://hdl.handle.net/20.500.13003/19389 https://hdl.handle.net/20.500.12105/23639 37653545 10.1186/s13023-023-02865-5 1750-1172 Orphanet journal of rare diseases 2-s2.0-85169400056 1059595600003 L2025198040 Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca