Whole exome sequencing with genomic triangulation implicatesCDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy

A multi-generational pedigree with phenotype-positive, genotype-negative arrhythmogenic cardiomyopathy (ACM) with presumed autosomal dominant, maternal inheritance (n=4: 14-year-old female proband, affected mother, affected sister, unaffected father).

Whole exome sequencing (WES) with genomic triangulation and in silico mutation prediction.

Identification of a novel ACM-susceptibility gene.surrogate