dc.contributor.author |
Cisneros-Barroso, E. |
|
dc.contributor.author |
Gorram, F. |
|
dc.contributor.author |
Ribot-Sansó, M.A. |
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dc.contributor.author |
Alarcon, F. |
|
dc.contributor.author |
Nuel, G. |
|
dc.contributor.author |
González-Moreno, J. |
|
dc.contributor.author |
Rodríguez, A. |
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dc.contributor.author |
Hernandez-Rodriguez, J. |
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dc.contributor.author |
Amengual-Cladera, E. |
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dc.contributor.author |
Martínez-López, I. |
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dc.contributor.author |
Ripoll-Vera, T. |
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dc.contributor.author |
Losada-López, I. |
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dc.contributor.author |
Heine-Suñer, D. |
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dc.contributor.author |
Plante-Bordeneuve, V. |
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dc.date.accessioned |
2024-02-06T09:10:40Z |
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dc.date.available |
2024-02-06T09:10:40Z |
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dc.identifier.uri |
http://hdl.handle.net/11201/164543 |
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dc.description.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 afected 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 diference of risk according to the parent of origin. Conclusions In this frst study assessing the age-related penetrance of ATTRV30M variant in Majorcan families, no efect of gender or parent of origin was observed. These fndings will be helpful for improving management and follow-up of TTR variant carrier individuals. |
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dc.format |
application/pdf |
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dc.relation.isformatof |
|
|
dc.relation.ispartof |
Orphanet Journal Of Rare Diseases, 2023 |
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dc.rights |
, 2023 |
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dc.subject.classification |
57 - Biologia |
|
dc.subject.classification |
Ciències de la salut |
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dc.subject.classification |
61 - Medicina |
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dc.subject.other |
57 - Biological sciences in general |
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dc.subject.other |
Medical sciences |
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dc.subject.other |
61 - Medical sciences |
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dc.title |
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca |
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dc.type |
info:eu-repo/semantics/article |
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dc.date.updated |
2024-02-06T09:10:41Z |
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dc.rights.accessRights |
info:eu-repo/semantics/openAccess |
|