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Updated: Apr 15, 2026
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene
Ivone U S Leong1, Jennifer Sucich, Debra O Prosser
1Diagnostic Genetics, LabPLUS, Auckland City Hospital , PO Box 110031, Auckland 1142 , New Zealand.
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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