Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy

Clin Genet. 2023 Aug;104(2):266-268. doi: 10.1111/cge.14321. Epub 2023 Mar 12.

¹ Institute for Cardiogenetics, University of Lübeck, DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, and University Heart Center Lübeck, Lübeck, Germany.
² National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
³ National Institute of Cardiovascular Disease, Karachi, Pakistan.
⁴ Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany.

Abstract

Arrhythmogenic right ventricular cardiomyopathy caused by a homozygous frameshift variant (c.2358delA) in DSG2.

Keywords: ARVC; DSG2; exome sequencing; frameshift mutation; incomplete penetrance.