title: Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplification.
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.
authors.affiliation: The Royal Children's Hospital Melbourne, Victoria, Australia.
authors.forename: Lucas J
authors.initials: LJ
authors.lastname: Eastaugh
authors.forename: Paul A
authors.initials: PA
authors.lastname: James
authors.forename: Dean G
authors.initials: DG
authors.lastname: Phelan
authors.forename: Andrew M
authors.initials: AM
authors.lastname: Davis
mesh_terms: D000293:Adolescent; D053840:Brugada Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D008297:Male; D062554:NAV1.5 Voltage-Gated Sodium Channel; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels