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

  • Ivone U. S. Leong Diagnostic Genetics, LabPLUS, Auckland City Hospital, PO Box 110031, Auckland 1142, New Zealand
  • Jennifer Sucich Diagnostic Genetics, LabPLUS, Auckland City Hospital, PO Box 110031, Auckland 1142, New Zealand
  • Debra O. Prosser Diagnostic Genetics, LabPLUS, Auckland City Hospital, PO Box 110031, Auckland 1142, New Zealand
  • Jonathan R. Skinner Greenlane Paediatric and Congenital Cardiac Service, Starship Children’s Hospital, Grafton Auckland, Private Bag 92024, New Zealand, Cardiac Inherited Disease Group, Auckland City Hospital, Auckland, New Zealand, Department of Child Health, The University of Auckland, Private Bag 92019, Auckland 1142, New Zealand
  • Jackie R. Crawford Greenlane Paediatric and Congenital Cardiac Service, Starship Children’s Hospital, Grafton Auckland, Private Bag 92024, New Zealand, Cardiac Inherited Disease Group, Auckland City Hospital, Auckland, New Zealand
  • Colleen Higgins School of Applied Sciences, Auckland University of Technology, Private Bag 92006, Auckland, New Zealand
  • Donald R. Love Diagnostic Genetics, LabPLUS, Auckland City Hospital, PO Box 110031, Auckland 1142, New Zealand, and Cardiac Inherited Disease Group, Auckland City Hospital, Auckland, New Zealand
Keywords: aCGH, array comparative genomic hybridization, catecholaminergic polymorphic ventricular tachycardia, CPVT, ryanodine receptor 2 gene, RYR2

Abstract

Background. 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 RYR2 gene, and copy number changes of a limited number of exons that are detected using multiplex ligation-dependent probe amplification (MLPA).

Methods. In 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.

Results. The 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. Conclusions. The aCGH method offers significant advantages over MLPA in genetic screening for heritable cardiac disorders.

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Published
2015-04-02
How to Cite
Leong, I. U. S., Sucich, J., Prosser, D. O., Skinner, J. R., Crawford, J. R., Higgins, C., & Love, D. R. (2015). Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the <em>RYR2</em&gt; gene. Upsala Journal of Medical Sciences, 120(3). https://doi.org/10.3109/03009734.2015.1029101
Section
Original Articles