Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions

Abstract excerpt

BACKGROUND: Truncating variants (TTNtvs) in the titin ( TTN ) gene have been associated with cardiomyopathies or arrhythmias (C/A) and autosomal recessive neuromuscular diseases (NM). However, the clinical significance of TTNtvs across the entire coding sequence of TTN has not been comprehensively assessed. The purpose of this study was to examine the burden of TTNtvs in C/A and NM cases compared with controls in...