Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies


Titin Variant Study - RECOVERY 2016

DCM cohort describing recovery of cardiac function after LVAD support (2016)

Recovery of Cardiac Function in Cardiomyopathy Caused by Titin Truncation.
Leanne E. Felkin, Roddy Walsh, James S. Ware, Magdi H. Yacoub, Emma J. Birks, Paul J. R. Barton, Stuart A. Cook
JAMA Cardiology 2016 doi:10.1001/jamacardio.2016.0208

Patient cohorts analysed in this study

CohortDescriptionStatusSizeTTNtv %
DCM-RECDCM patients who recovered cardiac functionDCM3020.0%
DCM-NON-RECDCM patients who did not recover cardiac functionDCM439.3%

Truncating variants identified in this study

CohortPatient IDExonBandVariant (CDS)Variant (protein)Variant Type
DCM-REC20JH01781252 I-bandc.46782C>Ap.Y15594Xnonsense
DCM-REC20JB01501264 A-bandc.49346-1G>Aessential splice site
DCM-REC20JJ01199327 A-bandc.71326G>Tp.E23776Xnonsense
DCM-REC20SB01532327 A-bandc.76383_76386delTAATp.Asn25462LysfsTer4frameshift
DCM-REC20DH01701327 A-bandc.81518delCp.Pro27173HisfsTer17frameshift
DCM-REC20BM01499329 A-bandc.87624C>Ap.Y29208Xnonsense
DCM-NON-REC20CM01195228 I-bandc.41641C>Tp.R13881Xnonsense
DCM-NON-REC20PD01505298 A-bandc.58172delAp.Asp19391AlafsTer45frameshift
DCM-NON-REC20JD01577320 A-bandc.67495C>Tp.R22499Xnonsense
DCM-NON-REC20BP01200327 A-bandc.69976G>Tp.E23326Xnonsense