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 excerpt

BACKGROUND: Long QT syndrome (LQTS) is the most common cardiac channelopathy with 15 elucidated LQTS-susceptibility genes. Approximately 20% of LQTS cases remain genetically elusive. METHODS AND RESULTS: We combined whole-exome sequencing and bioinformatic/systems biology to identify the pathogenic substrate responsible for nonsyndromic, genotype-negative, autosomal dominant LQTS in a multigenerational pedigree,...

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