A Complex Double Deletion in <i>LMNA</i> Underlies Progressive Cardiac Conduction Disease, Atrial Arrhythmias, and Sudden Death

Abstract

We identified for the first time a complex LMNA gene rearrangement involving a double deletion in a 4-generation Dutch family with progressive conduction system disease. Our findings underscore the fact that if conventional polymerase chain reaction-based direct sequencing approaches for LMNA analysis are negative in suggestive pedigrees, mutation detection techniques capable of detecting gross genomic lesions involving deletions and insertions should be considered.