Prevalence of Titin Truncating Variants in General Population

[PUBLICATION] PLoS ONE 10(12): e0145284. doi:10.1371/journal.pone.0145284. 2015 Dec 23.

Truncating titin (TTN) mutations, especially in A-band region, represent the most common cause of dilated cardiomyopathy (DCM). Clinical interpretation of these variants can be challenging, as these variants are also present in reference populations. We carried out sys- tematic analyses of TTN truncating variants (TTNtv) in publicly available reference popula- tions, including, for the first time, data from Exome Aggregation Consortium (ExAC). The goal was to establish more accurate estimate of prevalence of different TTNtv to allow better clinical interpretation of these findings.

Akinrinade O, Koskenvuo JW, Alastalo TP


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