A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia in Bedouin Families from Israel
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Catecholamine-induced polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death, in response to physical activity or emotional stress. Two modes of inheritance have been described: autosomal dominant and autosomal recessive. Mutations in the ryanodine receptor 2 gene (RYR2), which encodes a cardiac sarcoplasmic reticulum (SR) Ca(2+)-release channel, were recently shown to cause the autosomal dominant form of the disease. In the present report, we describe a missense mutation in a highly conserved region of the calsequestrin 2 gene (CASQ2) as the potential cause of the autosomal recessive form. The CASQ2 protein serves as the major Ca(2+) reservoir within the SR of cardiac myocytes and is part of a protein complex that contains the ryanodine receptor. The mutation, which is in full segregation in seven Bedouin families affected by the disorder, converts a negatively charged aspartic acid into a positively charged histidine, in a highly negatively charged domain, and is likely to exert its deleterious effect by disrupting Ca(2+) binding.
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In patients with CPVT, 60% have a mutation in either RyR2 or CASQ2.
“In patients with CPVT, 60% have a mutation in either the gene encoding the cardiac ryanodine receptor (RyR2) (autosomal dominant) or in the cardiac calsequestrin gene (CASQ2) (autosomal recessive) (330–333).”
From 2017 ACC/AHA/HRS Guideline for the Evaluation and Management of Patients With Syncope (2017) · cites this paper as [332]
The paper’s opening summary (page not provided) links RYR2 mutations to autosomal dominant catecholamine-induced PVT and describes a CASQ2 mutation as a potential cause of the autosomal recessive form. It does not report that 60% of patients have a mutation in either gene; searches for that percentage and for mutation prevalence found no such estimate. (LLM, conf=0.88)
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- Authors
- Lahat, H., Pras, E., Olender, T., Avidan, N., Ben-Asher, E., Man, O., Levy-Nissenbaum, E., Khoury, A., Lorber, A., Goldman, B., Lancet, D., & Eldar, M.
- Affiliations
- Sheba Medical Center (IL)
- Crown Human Genome Center (IL)
- Rambam Health Care Campus (IL)
- Corresponding author
- Pras, Elon
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-12
- Volume
- 69
- Issue
- 6
- Pages
- 1378-1384
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1235548
- OpenAlex
- W2090820454
- Cited by
- 655
- References
- 25
- Citations by year
- 2026: 9 · 2025: 12 · 2024: 20 · 2023: 13 · 2022: 23 · 2021: 20 · 2020: 36 · 2019: 22 · 2018: 14 · 2017: 37 · 2016: 33 · 2015: 29 · 2014: 23 · 2013: 45 · 2012: 48
- FWCI
- 14.21
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Israel Science Foundation
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
- Keywords
- CASQ2, missense mutations, autosomal recessive inheritance, RyR2, cardiac sarcoplasmic reticulum, calcium binding, Bedouin family, sudden cardiac death, syncope
- MeSH terms
- Amino Acid Sequence, Base Sequence, Calsequestrin, Catecholamines, Child, DNA Mutational Analysis, Electrocardiography, Ethnicity, Exons, Female, Genes, Recessive, Humans, Israel, Male, Models, Molecular, Molecular Sequence Data, Pedigree, Protein Conformation, Sequence Alignment, Conserved Sequence, Tachycardia, Ventricular, Age of Onset, Mutation, Missense
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