Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina

Abstract Background In Argentina, there is limited data of prevalence of variant transthyretin amyloidosis (ATTRv) and phenotype‐genotype correlation. The laboratory of Hospital Italiano de Buenos Aires (HIBA) is a reference center for transthyretin (TTR) gene sequencing. The Institutional Amyloidos...

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Autores principales:	Maria S. Saez, Maria A. Aguirre, Diego Pérez de Arenaza, Patricia Sorroche, Elsa Nucifora, Maria L. Posadas Martinez
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	amyloid cardiomyopathy amyloid neuropathy amyloidosis amyloidosis hereditary transthyretin‐related transthyretin gene variants Genetics QH426-470
Acceso en línea:	https://doaj.org/article/5d73036fc1a04e02bbbc75b74a265219
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spelling	oai:doaj.org-article:5d73036fc1a04e02bbbc75b74a2652192021-11-21T19:38:53ZEpidemiology of variant transthyretin amyloidosis at a reference center in Argentina2324-926910.1002/mgg3.1812https://doaj.org/article/5d73036fc1a04e02bbbc75b74a2652192021-11-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1812https://doaj.org/toc/2324-9269Abstract Background In Argentina, there is limited data of prevalence of variant transthyretin amyloidosis (ATTRv) and phenotype‐genotype correlation. The laboratory of Hospital Italiano de Buenos Aires (HIBA) is a reference center for transthyretin (TTR) gene sequencing. The Institutional Amyloidosis Registry (RIA) enable us to characterize people with ATTRv. Our aim was to describe the prevalence of TTR mutations at a reference center in Argentina and the phenotypic presentations of patients with ATTRv included in an institutional registry. Methods Retrospective cohort study of consecutive patients with genetic variants in the TTR gene identified from 2012 to 2019 in the laboratory. We collected all phenotypic characteristics of patients who were clinically evaluated by HIBA doctors. Results Five hundred seventy‐six patients tested, 141 positive: p.Val50Met 107, p.Thr80Ala 16, p.Ala117Ser 9, p.Phe84Leu 2, p.Ile127Val 2, p.Tyr134Cys 2, p.Ala56Pro 2, p.Val142Ile 1. Only 20 patients were clinically evaluated. The mean age at diagnosis was 54 years; 70% had family history with a pedigree median of 4. Mutations were p.Thr80Ala 9, p.Val50Met 6, p.Ala56Pro 2, p.Val142Ile 1, p.Phe84Leu 1, and p.Tyr134Cys 1. Eleven patients presented polyneuropathy, 11 had gastrointestinal compromise, six patients had autonomic compromise, six presented cardiac symptoms and four patients presented ocular involvement. Conclusion We present the first prevalence report of TTR mutations in a reference center of amyloidosis in Argentina. The most frequent genetic variant was p.Val50Met. Our data show considerable phenotypic heterogeneity in the patients with ATTRv.Maria S. SaezMaria A. AguirreDiego Pérez de ArenazaPatricia SorrocheElsa NuciforaMaria L. Posadas MartinezWileyarticleamyloid cardiomyopathyamyloid neuropathyamyloidosisamyloidosis hereditary transthyretin‐relatedtransthyretin gene variantsGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	amyloid cardiomyopathy amyloid neuropathy amyloidosis amyloidosis hereditary transthyretin‐related transthyretin gene variants Genetics QH426-470
spellingShingle	amyloid cardiomyopathy amyloid neuropathy amyloidosis amyloidosis hereditary transthyretin‐related transthyretin gene variants Genetics QH426-470 Maria S. Saez Maria A. Aguirre Diego Pérez de Arenaza Patricia Sorroche Elsa Nucifora Maria L. Posadas Martinez Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina
description	Abstract Background In Argentina, there is limited data of prevalence of variant transthyretin amyloidosis (ATTRv) and phenotype‐genotype correlation. The laboratory of Hospital Italiano de Buenos Aires (HIBA) is a reference center for transthyretin (TTR) gene sequencing. The Institutional Amyloidosis Registry (RIA) enable us to characterize people with ATTRv. Our aim was to describe the prevalence of TTR mutations at a reference center in Argentina and the phenotypic presentations of patients with ATTRv included in an institutional registry. Methods Retrospective cohort study of consecutive patients with genetic variants in the TTR gene identified from 2012 to 2019 in the laboratory. We collected all phenotypic characteristics of patients who were clinically evaluated by HIBA doctors. Results Five hundred seventy‐six patients tested, 141 positive: p.Val50Met 107, p.Thr80Ala 16, p.Ala117Ser 9, p.Phe84Leu 2, p.Ile127Val 2, p.Tyr134Cys 2, p.Ala56Pro 2, p.Val142Ile 1. Only 20 patients were clinically evaluated. The mean age at diagnosis was 54 years; 70% had family history with a pedigree median of 4. Mutations were p.Thr80Ala 9, p.Val50Met 6, p.Ala56Pro 2, p.Val142Ile 1, p.Phe84Leu 1, and p.Tyr134Cys 1. Eleven patients presented polyneuropathy, 11 had gastrointestinal compromise, six patients had autonomic compromise, six presented cardiac symptoms and four patients presented ocular involvement. Conclusion We present the first prevalence report of TTR mutations in a reference center of amyloidosis in Argentina. The most frequent genetic variant was p.Val50Met. Our data show considerable phenotypic heterogeneity in the patients with ATTRv.
format	article
author	Maria S. Saez Maria A. Aguirre Diego Pérez de Arenaza Patricia Sorroche Elsa Nucifora Maria L. Posadas Martinez
author_facet	Maria S. Saez Maria A. Aguirre Diego Pérez de Arenaza Patricia Sorroche Elsa Nucifora Maria L. Posadas Martinez
author_sort	Maria S. Saez
title	Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina
title_short	Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina
title_full	Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina
title_fullStr	Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina
title_full_unstemmed	Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina
title_sort	epidemiology of variant transthyretin amyloidosis at a reference center in argentina
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/5d73036fc1a04e02bbbc75b74a265219
work_keys_str_mv	AT mariassaez epidemiologyofvarianttransthyretinamyloidosisatareferencecenterinargentina AT mariaaaguirre epidemiologyofvarianttransthyretinamyloidosisatareferencecenterinargentina AT diegoperezdearenaza epidemiologyofvarianttransthyretinamyloidosisatareferencecenterinargentina AT patriciasorroche epidemiologyofvarianttransthyretinamyloidosisatareferencecenterinargentina AT elsanucifora epidemiologyofvarianttransthyretinamyloidosisatareferencecenterinargentina AT marialposadasmartinez epidemiologyofvarianttransthyretinamyloidosisatareferencecenterinargentina
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Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina

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