ReviewAnnals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc2019
Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia.
Review in Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Pleiotropic Phenotype of RYR2 Exon 3 Deletion: Biventricular Noncompaction and Malignant Arrhythmias.JACC. Case reports · 2026Article
- Compromised repolarization reserve in a murine model of catecholaminergic polymorphic ventricular tachycardia caused by RyR2-R420Q mutation.Journal of molecular and cellular cardiology · 2025Article
- The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.Journal of cardiovascular development and disease · 2025Review
- Unveiling catecholaminergic polymorphic ventricular tachycardia: A case of type 2 ryanodine receptor exon 3 deletion mimicking long QT syndrome type 1.HeartRhythm case reports · 2025Article
- Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics.Biomolecules · 2024Article
- Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview.Diagnostics (Basel, Switzerland) · 2023Review
- RYR2-ryanodinopathies: from calcium overload to calcium deficiency.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2023Article
- Sinus node dysfunction: current understanding and future directions.American journal of physiology. Heart and circulatory physiology · 2023Review
- Identification of two variants inClinical case reports · 2022Article
- Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.Frontiers in pharmacology · 2021Review
- Genetic Complexity of Sinoatrial Node Dysfunction.Frontiers in genetics · 2021Review
- Epidemiology of inherited arrhythmias.Nature reviews. Cardiology · 2020Review
- Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2019Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundRYR2, encoding cardiac ryanodine receptor, is the major responsible gene for catecholaminergic polymorphic ventricular tachycardia (CPVT). Meanwhile, KCNJ2, encoding inward-rectifier potassium channel (I
methodsA targeted panel sequencing (TPS) was employed in the proband. Copy number variation (CNV) in RYR2 was identified by focusing on read numbers in the TPS and long-range PCR. Cascade screening was conducted by a Sanger method and long-range PCR. KCNJ2 wild-type (WT) or an identified variant was expressed in COS-1 cells, and whole-cell currents (I
resultsA 40-year-old female experienced cardiopulmonary arrest while cycling. Her ECG showed sinus bradycardia with prominent U-waves (≥0.2 mV). She had left ventricular hypertrabeculation at apex. Exercise induced frequent polymorphic ventricular arrhythmias. Her sister died suddenly at age 35 while bouldering. Her father and paternal aunt, with prominent U-waves, received permanent pacemaker due to sinus node dysfunction. The initial TPS and cascade screening identified a KCNJ2 E118D variant in all three symptomatic patients. However, after focusing on read numbers, we identified a novel exon3 deletion of RYR2 (RYR2-exon3 deletion) in all of them. Functional analysis revealed that KCNJ2 E118D generated I
conclusionsFocusing on the read numbers in the TPS enabled us to identify a novel CNV, RYR2-exon3 deletion, which was associated with phenotypic features of this family.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.