Key result
Array comparative genomic hybridization successfully detects a RYR2 deletion in a patient with CPVT.
Why the study?
Standard diagnostic screening for CPVT involves Sanger-based sequencing and MLPA, which detect limited exons and copy number changes, respectively, but alternative methods may improve detection.
Does array comparative genomic hybridization (aCGH) effectively detect copy number changes in the RYR2 gene in patients with CPVT?
Case Report (n=5)
No
Does array comparative genomic hybridization (aCGH) effectively detect copy number changes in the RYR2 gene in patients with CPVT?
Array comparative genomic hybridization (aCGH) successfully identified a heterozygous deletion of exon 3 in the RYR2 gene in a patient with CPVT, suggesting it may offer advantages over MLPA for genetic screening.
Single case suggests aCGH detects RYR2 deletions in CPVT; leaves open clinical utility and comparison to MLPA.
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.
No takes yet. Share an insight, caveat, or question.
Leong et al. (2015) conducted a case report in Catecholaminergic polymorphic ventricular tachycardia (CPVT) (n=5). Array comparative genomic hybridization (aCGH) was evaluated on Detection of copy number changes in the RYR2 gene. Array comparative genomic hybridization successfully detected a 1.1 kb heterozygous deletion encompassing exon 3 of the RYR2 gene in a patient with catecholaminergic polymorphic ventricular tachycardia.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: