Article
Titin-truncating variants affect heart function in disease cohorts and the general population.
Nature genetics - 1 Jan 2017
Schafer Sebastian, de Marvao Antonio, Adami Eleonora, Fiedler Lorna R, Ng Benjamin, Khin Ester, Rackham Owen J L, van Heesch Sebastiaan, Pua Chee J, Kui Miao, Walsh Roddy, Tayal Upasana, Prasad Sanjay K, Dawes Timothy J W, Ko Nicole S J, Sim David, Chan Laura L H, Chin Calvin W L, Mazzarotto Francesco, Barton Paul J, Kreuchwig Franziska, de Kleijn Dominique P V, Totman Teresa, Biffi Carlo, Tee Nicole, Rueckert Daniel, Schneider Valentin, Faber Allison, Regitz-Zagrosek Vera, Seidman Jonathan G, Seidman Christine E, Linke Wolfgang A, Kovalik Jean-Paul, O'Regan Declan, Ware James S, Hubner Norbert, Cook Stuart A
Abstract excerpt
Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM). TTNtv are also encountered in ∼1% of the general population, where they may be silent, perhaps reflecting allelic factors. To better understand TTNtv, we integrated TTN allelic series, cardiac imaging and genomic data in humans and studied rat models with disparate TTNtv. In patients with DCM, TTNtv throughout titin were significantly...
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