Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies


Titin Variant Study - PPCM 2014

Peripartum cardiomyopathy (PPCM) cohort from Netherlands, Germany and South Africa (2014)

Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
van Spaendonck-Zwarts KY, Posafalvi A, van den Berg MP, Hilfiker-Kleiner D, Bollen IA, Sliwa K, Alders M, Almomani R, van Langen IM, van der Meer P, Sinke RJ, van der Velden J, Van Veldhuisen DJ, van Tintelen JP, Jongbloed JD
Eur Heart J. 2014

Patient cohorts analysed in this study

CohortDescriptionStatusSizeTTNtv %
PPCMPPCM cases from Netherlands (11), Germany (6) and South Africa (1)PPCM1838.9%

Truncating variants identified in this study

CohortPatient IDExonBandVariant (CDS)Variant (protein)Variant Type
PPCMGER4-II:1253 A-bandc.46990_46993delAAGGp.Lys15664Valfs*13frameshift
PPCMNL9-III:1277 A-bandc.52795C>Tp.Arg17599*nonsense
PPCMGER1-II:1284 A-bandc.55070G>Ap.Trp18357*nonsense
PPCMNL1-II:3327 A-bandc.82117C>Tp.Arg27373*nonsense
PPCMNL6-II:3327 A-bandc.86171_86174dupAAAGp.Asn28726Lysfs*3frameshift
PPCMNL10-II:6327 A-bandc.71867_71876delGAGTTCTGGAap.Arg23956Thrfs*9aframeshift
PPCMNL11-III:1327 A-bandc.81949dupAp.Ser27317Lysfs*10frameshift