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Publication Detail
Analysis of the TTR gene in the investigation of amyloidosis: A 25‐year single UK center experience
  • Publication Type:
    Journal article
  • Publication Sub Type:
  • Authors:
    Rowczenio D, Quarta CC, Fontana M, Whelan CJ, Martinez-Naharro A, Trojer H, Baginska A, Ferguson SM, Gilbertson J, Rezk T, Sachchithanantham S, Mahmood S, Manwani R, Sharpley F, Wechalekar AD, Hawkins PN, Gillmore JD, Lachmann HJ
  • Publisher:
  • Publication date:
  • Journal:
    Human Mutation
  • Status:
    Published online
  • Country:
    United States
  • Print ISSN:
  • Language:
  • Keywords:
    Cardiomyopathy, Neuropathy, TTR gene variants, Transthyretin amyloidosis (ATTR), Variant (ATTRm) transthyretin amyloidosis, Wild-type (ATTRwt) transthyretin amyloidosis
Transthyretin amyloidosis (ATTR) is caused by deposition of either wild-type (ATTRwt) or variant (ATTRm) transthyretin. ATTRwt presents with restrictive cardiomyopathy, whilst ATTRm displays a range of organ involvement. This retrospective analysis includes all patients referred to the single UK centre in the last 25 years for clinical and laboratory assessment of known or suspected amyloidosis who underwent TTR gene sequencing. 4459 patients were included in this study; 37% had final diagnosis of ATTR amyloidosis; 27% AL amyloidosis; 0.7% other types of amyloidosis; 21.3% had no amyloid and 14% had no data. TTR variants were found in 770 (17%) cases; the most prevalent were p.V142I, p.T80A and p.V50M identified in 42%, 25% and 16% respectively. The median age at referral in each group was: 76 (range 47-93); 66 (40-81) and 45 years (21-86) respectively. 42 rare or novel variants were identified. 42% of patients with ATTRm died at a median age of 73 years (33-89) with a median survival from diagnosis of 50 months. ATTRwt was the final diagnosis in 20% of patients undergoing genetic testing. Our findings of TTR variants in 17% of screened patients highlights the need for routine genetic testing in the evaluation of suspected ATTR amyloidosis. This article is protected by copyright. All rights reserved.
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