Open AccessIdentification of Cadherin 2 ( CDH2 ) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy
Author(s) -
Bongani M. Mayosi,
Maryam Fish,
Gasnat Shaboodien,
Elisa Mastantuono,
Sarah Kraus,
Thomas Wieland,
MariaChristina Kotta,
Ashley Chin,
Nakita Laing,
Ntobeko Ntusi,
Michael Chong,
Christopher Horsfall,
Simon N. Pimstone,
Davide Gentilini,
Gianfranco Parati,
Tim-Matthias Strom,
Thomas Meitinger,
Guillaume Paré,
Peter J. Schwartz,
Lia Crotti
Publication year - 2017
Publication title -
circulation cardiovascular genetics
Language(s) - English
Resource type - Journals
eISSN - 1942-3268
pISSN - 1942-325X
DOI - 10.1161/circgenetics.116.001605
Subject(s) - genetics , sanger sequencing , biology , exome sequencing , exome , mutation , genotype , gene , proband
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous condition caused by mutations in genes encoding desmosomal proteins in up to 60% of cases. The 40% of genotype-negative cases point to the need of identifying novel genetic substrates by studying genotype-negative ARVC families.
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