{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T23:02:00Z","timestamp":1791241320860,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T00:00:00Z","timestamp":1634688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>In Argentina, there is limited data of prevalence of variant transthyretin amyloidosis (ATTRv) and phenotype\u2010genotype correlation. The laboratory of Hospital Italiano de Buenos Aires (HIBA) is a reference center for transthyretin (<jats:italic>TTR<\/jats:italic>) gene sequencing. The Institutional Amyloidosis Registry (RIA) enable us to characterize people with ATTRv. Our aim was to describe the prevalence of <jats:italic>TTR<\/jats:italic> mutations at a reference center in Argentina and the phenotypic presentations of patients with ATTRv included in an institutional registry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective cohort study of consecutive patients with genetic variants in the <jats:italic>TTR<\/jats:italic> gene identified from 2012 to 2019 in the laboratory. We collected all phenotypic characteristics of patients who were clinically evaluated by HIBA doctors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five hundred seventy\u2010six 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\u00a0years; 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\u00a0had gastrointestinal compromise, six patients had autonomic compromise, six presented cardiac symptoms and four patients presented ocular involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We present the first prevalence report of <jats:italic>TTR<\/jats:italic> 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.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1812","type":"journal-article","created":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T02:58:08Z","timestamp":1634785088000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7905-7549","authenticated-orcid":false,"given":"Maria S.","family":"Saez","sequence":"first","affiliation":[{"name":"Biochemistry Service Hospital Italiano de Buenos Aires Buenos Aires Argentina"},{"name":"Institute of Translational Medicine and Biomedical Engineering (IMTIB) Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria A.","family":"Aguirre","sequence":"additional","affiliation":[{"name":"Institute of Translational Medicine and Biomedical Engineering (IMTIB) Buenos Aires Argentina"},{"name":"Internal Medicine Department Hospital Italiano de Buenos Aires Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"P\u00e9rez de Arenaza","sequence":"additional","affiliation":[{"name":"Cardiology Service Hospital Italiano de Buenos Aires Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Sorroche","sequence":"additional","affiliation":[{"name":"Biochemistry Service Hospital Italiano de Buenos Aires Buenos Aires Argentina"},{"name":"Institute of Translational Medicine and Biomedical Engineering (IMTIB) Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Nucifora","sequence":"additional","affiliation":[{"name":"Institute of Translational Medicine and Biomedical Engineering (IMTIB) Buenos Aires Argentina"},{"name":"Hematology Service Hospital Italiano de Buenos Aires Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L.","family":"Posadas Martinez","sequence":"additional","affiliation":[{"name":"Institute of Translational Medicine and Biomedical Engineering (IMTIB) Buenos Aires Argentina"},{"name":"Research Unit of Internal Medicine Internal Medicine Department Hospital Italiano de Buenos Aires Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,10,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/13506129.2016.1207626"},{"issue":"2","key":"e_1_2_10_3_1","first-page":"105","article-title":"Presentations of transthyretin associated familial amyloid polyneuropathy in Argentina","volume":"76","author":"Chaves M.","year":"2016","journal-title":"Medicina"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1185\/03007995.2012.754348"},{"issue":"7","key":"e_1_2_10_5_1","first-page":"S107","article-title":"Hereditary ATTR amyloidosis: Burden of illness and diagnostic challenges","volume":"23","author":"Gertz M. A.","year":"2017","journal-title":"The American Journal of Managed Care"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0801-y"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2016.03.596"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000288"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.57.121304.131243"},{"issue":"4","key":"e_1_2_10_10_1","first-page":"273","article-title":"Diagnosis of familial amyloid polyneuropathy type I in Argentina","volume":"68","author":"P\u00e9rez G.","year":"2008","journal-title":"Medicina"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22619"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23669"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/13506129.2019.1582518"},{"key":"e_1_2_10_14_1","unstructured":"Website(n.d.). Institutional registry of amyloidosis. Full Text View \u2010 ClinicalTrials.gov.https:\/\/clinicaltrials.gov\/ct2\/show\/NCT01347047"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12500"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1812","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1812","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1812","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T09:27:02Z","timestamp":1693214822000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1812"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,20]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1002\/mgg3.1812"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1812","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,20]]},"assertion":[{"value":"2021-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1812"}}