Ontology highlight
ABSTRACT:
SUBMITTER: De Bortoli M
PROVIDER: S-EPMC2987370 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
De Bortoli Marzia M Beffagna Giorgia G Bauce Barbara B Lorenzon Alessandra A Smaniotto Gessica G Rigato Ilaria I Calore Martina M Li Mura Ilena E A IE Basso Cristina C Thiene Gaetano G Lanfranchi Gerolamo G Danieli Gian Antonio GA Nava Andrea A Rampazzo Alessandra A
European journal of human genetics : EJHG 20100303 7
Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), an autosomal-dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement. We screened 112 ARVC/D probands for mutations in desmocollin-2 (DSC2) gene and detected two different amino-acid substitutions (p.E102K, p.I345T) and a frameshift variation (p.A897KfsX4) in 7 (6.2%) patients. DSC2a variant p.A897KfsX4, previously r ...[more]