Cited by 655Cardiac electrophysiology and arrhythmiasIon channel regulation and functionCardiovascular Effects of Exercise

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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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Lahat, Hadas, Pras, Elon, Olender, Tsviya, Avidan, Nili, Ben-Asher, Edna, Man, Orna, Levy-Nissenbaum, Etgar, Khoury, Asad, Lorber, Avraham, Goldman, Boleslaw, Lancet, Doron, Eldar, Michael·2001·The American Journal of Human Genetics

DOI 10.1086/324565PMC PMC1235548

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Abstract

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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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
ORCID: Pras, Elon
Olender, Tsviya
Avidan, Nili
Lorber, Avraham
Goldman, Boleslaw
Lancet, Doron
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)
DOI: 10.1086/324565
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: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 4248 d)
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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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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