Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four‐generation Canadian family-Reference-Cited by-同舟云学术

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four‐generation Canadian family

Published:2020-01-28 Issue:4 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Tung Matthew¹^ORCID,Van Petegem Filip²^ORCID,Lauson Samantha³,Collier Ashley⁴,Hodgkinson Kathy⁵,Fernandez Bridget⁴⁶,Connors Sean⁷,Leather Rick¹,Sanatani Shubhayan⁸^ORCID,Arbour Laura³⁹¹⁰^ORCID

Affiliation:

1. Royal Jubilee Hospital Victoria BC Canada

2. Department of Biochemistry and Molecular Biology University of British Columbia Vancouver BC Canada

3. Division of Medical Genetics Island Health Victoria BC Canada

4. Provincial Medical Genetics Program Eastern Health St. John's NL Canada

5. Clinical Epidemiology and Genetics, Faculty of Medicine Memorial University of Newfoundland St John's NL Canada

6. Discipline of Genetics, Faculty of Medicine Memorial University of Newfoundland St John’s NL Canada

7. Division of Cardiology Faculty of Medicine Memorial University of Newfoundland St John's NL Canada

8. Division of Cardiology Department of Pediatrics University of British Columbia Vancouver BC Canada

9. Department of Medical Genetics University of British Columbia Vancouver BC Canada

10. Division of Medical Sciences University of Victoria Victoria BC Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1151

Reference51 articles.

1. HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

2. Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation

3. Type 2 Ryanodine Receptor Domain A Contains a Unique and Dynamic α-Helix That Transitions to a β-Strand in a Mutant Linked with a Heritable Cardiomyopathy

4. Crystal structure of type I ryanodine receptor amino-terminal -trefoil domain reveals a disease-associated mutation "hot spot" loop

5. Expression and Intracellular Localization of an SCN5A Double Mutant R1232W/T1620M Implicated in Brugada Syndrome

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