| Autor: |
E. Cisneros-Barroso, F. Gorram, M. A. Ribot-Sansó, F. Alarcon, G. Nuel, J. González-Moreno, A. Rodríguez, J. Hernandez-Rodriguez, E. Amengual-Cladera, I. Martínez-López, T. Ripoll-Vera, I. Losada-López, D. Heine-Suñer, V. Plante-Bordeneuve |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1750-1172 |
| DOI: |
10.1186/s13023-023-02865-5 |
| Popis: |
Abstract 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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