Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, <i>CACNA1C</i> , Linked to Autosomal Dominant Long QT Syndrome

Abstract

This study provides evidence that coupling whole-exome sequencing and bioinformatic/systems biology is an effective strategy for the identification of potential disease-causing genes/mutations. The identification of a functional CACNA1C mutation cosegregating with disease in a single pedigree suggests that CACNA1C perturbations may underlie autosomal dominant LQTS in the absence of Timothy syndrome.