Referenced in: none

Automatically associated channels: Nav1.5

Title: Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplification.

Authors: Lucas J Eastaugh, Paul A James, Dean G Phelan, Andrew M Davis

Journal, date & volume: J. Cardiovasc. Electrophysiol., 2011 Sep , 22, 1073-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21288276

Abstract
A 14-year-old boy presented with atrial flutter. His ECG showed Brugada changes, first-degree AV block and major sinus pauses. Polymorphic VT was inducible at electrophysiology study. A pacemaker defibrillator was placed. Classic sequencing for SCN5A was normal. Multiplex ligation-dependent probe amplification, however, detected a major deletion in SCN5A. It is predicted that this deletion would result in haploinsufficiency. The report is the first description of a large-scale rearrangement of the SCN5A gene and supports the association between the molecular pathology and the phenotypic expression.