Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies


Titin Variant Study - PAED 2016

Assessment of TTNtv in children and adolescents with DCM (2016)

Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young.
Diane Fatkin, Lien Lam, Daniel S. Herman, Craig C. Benson, Leanne E. Felkin, Paul J.R. Barton, Roddy Walsh, Sukru Candan, James S. Ware, Angharad M. Roberts, Wendy K. Chung, Leslie Smoot, Helen Bornaun, Anne M. Keogh, Peter S. Macdonald, Christopher S. Hayward, J.G. Seidman, Amy E. Roberts, Stuart A. Cook, Christine E. Seidman
Progress in Pediatric Cardiology 2016 40:41-45

Patient cohorts analysed in this study

CohortDescriptionStatusSizeTTNtv %
CHILDRENChildren with DCM (<15 years) from several centresDCM515.9%
ADOLESCENTAdolescents with DCM (15 - 21 years) from several centresDCM3122.6%

Truncating variants identified in this study

CohortPatient IDExonBandVariant (CDS)Variant (protein)Variant Type
CHILDRENDCM-2249 I-bandc.13966C>Tp.Q4656Xnonsense
CHILDRENUK-450 I-bandc.14245C>Tp.R4749Xnonsense
CHILDRENUK-10297 A-bandc.58034_58035delCTp.T19345SfsX2frameshift
ADOLESCENTUK-19252 I-bandc.46782C>Ap.Y15594Xnonsense
ADOLESCENTUK-16327 A-bandc.69976G>Tp.E23326Xnonsense
ADOLESCENTUK-27327 A-bandc.71326G>Tp.E23776Xnonsense
ADOLESCENTAV-IV-2327 A-bandc.78095_78098delAAAGp.R26032TfsX41frameshift
ADOLESCENTBR-IV-1327 A-bandc.78991C>Tp.R26331Xnonsense
ADOLESCENTAG-III-1343 A-bandc.94855C>Tp.R31619Xnonsense
ADOLESCENTDCM-30350 A-bandc.97492+1G>Cessential splice site