Analysis of the TTR gene in the investigation of amyloidosis: A 25 ‐year single UK center experience

This review reports genetic testing results for 4459 patients with known or suspected amyloidosis who underwent TTR gene sequencing over the last 25 years in the UK single centre. 37% had final diagnosis of ATTR amyloidosis; 27% light chain amyloidosis; 0.7% other types of amyloidosis; 21.3% had no amyloid and 14% had no data. 45 different TTR variants were found in 770 (17%) cases; most prevalent were p.V142I, p.T80A, and p.V50M identified in 42%, 25% and 16% respectively. AbstractTransthyretin amyloidosis (ATTR) is caused by deposition of either wild ‐type (ATTRwt) or variant (ATTRm) transthyretin. ATTRwt presents with restrictive cardiomyopathy, while ATTRm displays a range of organ involvement. This retrospective analysis includes all patients referred to a single UK center in the last 25 years for clinical and laboratory assessment of know n or suspected amyloidosis who underwentTTR gene sequencing. A total of 4459 patients were included in this study; 37% had final diagnosis of ATTR amyloidosis; 27% light chain 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. Overall 42 rare or novel variants were identified. Forty‐two percent patients with ATTRm died at a median age of 7...
Source: Human Mutation - Category: Genetics & Stem Cells Authors: Tags: RESEARCH ARTICLE Source Type: research