Why the study?
Are truncating titin mutations (TTNtv) more prevalent in patients with dilated cardiomyopathy compared to a reference population, and what is their probability of pathogenicity?
Population
1788 patients with dilated cardiomyopathy and over 60,000 individuals from the Exome Aggregation Consortium…
Comparison
Assessment of truncating titin mutations… vs Reference population
Design
Cross-sectional
Authors
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TTNtv in DCM show 97.8% pathogenicity probability with transcript prioritization; supports refined variant interpretation but leaves open prospective validation.
Are truncating titin mutations (TTNtv) more prevalent in patients with dilated cardiomyopathy compared to a reference population, and what is their probability of pathogenicity?
Truncating titin mutations, particularly in the A-band and I/A-band junction affecting all transcripts, have a very high probability of pathogenicity in dilated cardiomyopathy, emphasizing their diagnostic importance.
Akinrinade et al. (2016) studied this question.
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