Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene. (August 2015)

• Record Type: Journal Article
• Authors: Leong, Ivone U. S.; Sucich, Jennifer; Prosser, Debra O.; Skinner, Jonathan R.; Crawford, Jackie R.; Higgins, Colleen; Love, Donald R.
• Is Part Of: Upsala journal of medical sciences. Volume 120:Number 3(2015:Sep.)
• Page Start: 190
• Page End: 197
• Publication Date: 2015-08
• Subjects: Medicine -- Periodicals; Medicine -- Periodicals; Electronic journals; 610.5
• Languages: English
• ISSNs: 0300-9734

Abstract

<abstract> <title>Abstract</title> <p> <italic>Background.</italic> Catecholaminergic 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 <italic>RYR2</italic> gene, and copy number changes of a limited number of exons that are detected using multiplex ligation-dependent probe amplification (MLPA).</p> <p> <italic>Methods.</italic> In the current study, a previously validated bespoke array comparative genomic hybridization (aCGH) technique was used to detect copy number changes in the <italic>RYR2</italic> gene in a 43-year-old woman clinically diagnosed with CPVT.</p> <p> <italic>Results.</italic> The CGH array detected a 1.1 kb deletion encompassing exon 3 of the <italic>RYR2</italic> gene. This is the first report using the aCGH technique to screen for mutations causing CPVT.</p> <p> <italic>Conclusions.</italic> The aCGH method offers significant advantages over MLPA in genetic screening for heritable cardiac disorders.</p> </abstract>