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Titin truncating mutations: a rare cause of dilated cardiomyopathy in the young

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Title: Titin truncating mutations: a rare cause of dilated cardiomyopathy in the young
Authors: Fatkin, D
Lam, L
Herman, DS
Benson, CC
Felkin, LE
Barton, PJR
Walsh, R
Candan, S
Ware, JS
Roberts, AM
Chung, WK
Smoot, L
Bornaun, H
Keogh, AM
Macdonald, PS
Hayward, CS
Seidman, JG
Roberts, AE
Cook, SA
Seidman, CE
Item Type: Journal Article
Abstract: Truncating mutations in the TTN gene are the most common genetic cause of dilated cardiomyopathy in adults but their role in young patients is unknown. We studied 82 young dilated cardiomyopathy subjects and found that the prevalence of truncating TTN mutations in adolescents was similar to adults, but surprisingly few truncating TTN mutations were identified in affected children, including one confirmed de novo variant. In several cases, truncating TTN mutations in children with dilated cardiomyopathy had evidence of additional clinical or genetic risk factors. These findings have implications for genetic testing and suggest that single truncating TTN mutations are insufficient alone to cause pediatric-onset dilated cardiomyopathy.
Issue Date: 18-Jan-2016
Date of Acceptance: 18-Jan-2016
URI: http://hdl.handle.net/10044/1/39013
DOI: http://dx.doi.org/10.1016/j.ppedcard.2016.01.003
ISSN: 1058-9813
Publisher: Elsevier
Start Page: 41
End Page: 45
Journal / Book Title: Progress in Pediatric Cardiology
Volume: 40
Copyright Statement: © 2016 Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/
Sponsor/Funder: British Heart Foundation
Heart Research UK
Fondation Leducq
Funder's Grant Number: SP/10/10/28431
RG2596/11/13
11 CVD-01
Keywords: Cardiovascular System & Hematology
Publication Status: Published
Appears in Collections:National Heart and Lung Institute



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