• Ups. J. Med. Sci. · Jan 2015

    Case Reports

    Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene.

    • LeongIvone U SIUDiagnostic Genetics, LabPLUS, Auckland City Hospital , PO Box 110031, Auckland 1142 , New Zealand., Jennifer Sucich, Debra O Prosser, Jonathan R Skinner, Jackie R Crawford, Colleen Higgins, and Donald R Love.
    • Diagnostic Genetics, LabPLUS, Auckland City Hospital , PO Box 110031, Auckland 1142 , New Zealand.
    • Ups. J. Med. Sci. 2015 Jan 1; 120 (3): 190197190-7.

    BackgroundCatecholaminergic polymorphic ventricular tachycardia (CPVT) is a heritable cardiac disorder characterized by life-threatening ventricular tachycardia caused by exercise or acute emotional stress. The standard diagnostic screening involves Sanger-based sequencing of 45 of the 105 translated exons of the RYR2 gene, and copy number changes of a limited number of exons that are detected using multiplex ligation-dependent probe amplification (MLPA).MethodsIn the current study, a previously validated bespoke array comparative genomic hybridization (aCGH) technique was used to detect copy number changes in the RYR2 gene in a 43-year-old woman clinically diagnosed with CPVT.ResultsThe CGH array detected a 1.1 kb deletion encompassing exon 3 of the RYR2 gene. This is the first report using the aCGH technique to screen for mutations causing CPVT.ConclusionsThe aCGH method offers significant advantages over MLPA in genetic screening for heritable cardiac disorders.

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