Cisneros-Barroso, EugeniaGorram, FRibot-Sansó, Maria AntoniaAlarcon, FNuel, GGonzález-Moreno, JuanRodríguez, AHernandez-Rodriguez, JessicaAmengual-Cladera, EmiliaMartínez-López, IcíarRipoll-Vera, TomásLosada-López, InésHeine-Suñer, DamiánPlante-Bordeneuve, V2024-10-092024-10-092023-08-31Cisneros-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/20.500.13003/19389https://hdl.handle.net/20.500.12105/23639Background: 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.enghttp://creativecommons.org/licenses/by/4.0/MaleFemaleArthrogryposisHumansHeterozygoteExcipientsAmyloid Neuropathies, Familialresearch articleAtribución 4.0 Internacional3765354518125510.1186/s13023-023-02865-51750-1172Orphanet journal of rare diseasesopen accessArtrogriposisExcipientesNeuropatías Amiloides FamiliaresHumanosHeterocigotoFemeninoMasculino2-s2.0-851694000561059595600003L2025198040