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Cardiogenetics
Volume 10
Issue 1
10.4081/cardiogenetics.2020.8637
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Brief Report

Assessment of Disease-Associated Missense Variants in RYR2 on Transcript Splicing

by
Damilola Olubando
1,2,
Huw Thomas
1,2,
Minoru Horie
3,
Raymond T. O’Keefe
1,2,
Luigi Venetucci
4,5 and
William Newman
1,2,5,*
1
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK
2
Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Human Sciences, University of Manchester, Manchester, UK
3
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Sciences, Otsu, Shiga, Japan
4
Manchester Heart Centre, Manchester University NHS Foundation Trust, Manchester, UK
5
Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Human Sciences, University of Manchester, Manchester, UK
*
Author to whom correspondence should be addressed.
Cardiogenetics 2020, 10(1), 8637; https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2020.8637
Submission received: 22 October 2019 / Revised: 10 March 2020 / Accepted: 6 April 2020 / Published: 1 June 2020
Versions Notes

Abstract

Heterozygous RYR2 missense variants cause catecholaminergic polymorphic ventricular tachycardia. Rarely, loss of function variants can result in ventricular arrhythmias. We used splice prediction tools and an ex vivo splicing assay to investigate whether RYR2 missense variants result in altered splicing. Ten RYR2 variants were consistently predicted to disrupt splicing, however none altered splicing in the splicing assay. In summary, missense RYR2 variants are unlikely to cause disease by altered splicing.
Keywords: genetic disease; catecholaminergic ventricular tachycardia; arrhythmia genetic disease; catecholaminergic ventricular tachycardia; arrhythmia

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MDPI and ACS Style

Olubando, D.; Thomas, H.; Horie, M.; O’Keefe, R.T.; Venetucci, L.; Newman, W. Assessment of Disease-Associated Missense Variants in RYR2 on Transcript Splicing. Cardiogenetics 2020, 10, 8637. https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2020.8637

AMA Style

Olubando D, Thomas H, Horie M, O’Keefe RT, Venetucci L, Newman W. Assessment of Disease-Associated Missense Variants in RYR2 on Transcript Splicing. Cardiogenetics. 2020; 10(1):8637. https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2020.8637

Chicago/Turabian Style

Olubando, Damilola, Huw Thomas, Minoru Horie, Raymond T. O’Keefe, Luigi Venetucci, and William Newman. 2020. "Assessment of Disease-Associated Missense Variants in RYR2 on Transcript Splicing" Cardiogenetics 10, no. 1: 8637. https://0-doi-org.brum.beds.ac.uk/10.4081/cardiogenetics.2020.8637

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