Article
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation - 4 Feb 2020
Mazzarotto Francesco, Tayal Upasana, Buchan Rachel J, Midwinter William, Wilk Alicja, Whiffin Nicola, Govind Risha, Mazaika Erica, de Marvao Antonio, Dawes Timothy J W, Felkin Leanne E, Ahmad Mian, Theotokis Pantazis I, Edwards Elizabeth, Ing Alexander Y, Thomson Kate L, Chan Laura L H, Sim David, Baksi A John, Pantazis Antonis, Roberts Angharad M, Watkins Hugh, Funke Birgit, O'Regan Declan P, Olivotto Iacopo, Barton Paul J R, Prasad Sanjay K, Cook Stuart A, Ware James S, Walsh Roddy
Abstract excerpt
BACKGROUND: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100 purported disease genes tested in clinical laboratories. However, many genes were originally identified based on candidate-gene studies that did not adequately account for background population variation. Here we define the frequency of rare variation in 2538 patients with DCM across protein-coding regions of 56 commonly tested genes...
Topics
- Adaptor Proteins, Signal Transducing
- Adolescent
- Adult
- Apoptosis Regulatory Proteins
- Cardiomyopathy, Dilated
- Exome
- Female
- Genetic Heterogeneity