Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe
Lucas J Eastaugh1, Paul A James, Dean G Phelan
1The Royal Children's Hospital Melbourne, Victoria, Australia.
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.
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