New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia

Javad Jabbari; Reza Jabbari; Morten Nielsen; Anders G Holst; Jonas B Nielsen; Stig Haunsø; Jacob Tfelt-Hansen; Jesper H Svendsen; Morten S Olesen

doi:10.1161/CIRCGENETICS.113.000118

New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia

Javad Jabbari, Reza Jabbari, Morten Nielsen, Anders G Holst, Jonas B Nielsen, Stig Haunsø, Jacob Tfelt-Hansen, Jesper H Svendsen, Morten S Olesen

64 Citationer (Scopus)

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal, rare hereditary disease with an estimated prevalence of 1:10 000. The genetic variants that cause CPVT are usually highly penetrant. To date, about 189 variants in 5 genes (RYR2, CASQ2, CALM1, TRND, and KCNJ2) have been associated with CPVT pathogenesis.

Originalsprog	Engelsk
Tidsskrift	Circulation. Cardiovascular genetics
Vol/bind	6
Udgave nummer	5
Sider (fra-til)	481-9
Antal sider	9
ISSN	1942-325X
DOI	https://doi.org/10.1161/CIRCGENETICS.113.000118
Status	Udgivet - okt. 2013

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Jabbari, J., Jabbari, R., Nielsen, M., Holst, A. G., Nielsen, J. B., Haunsø, S., Tfelt-Hansen, J., Svendsen, J. H., & Olesen, M. S. (2013). New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circulation. Cardiovascular genetics, 6(5), 481-9. https://doi.org/10.1161/CIRCGENETICS.113.000118

Jabbari, J, Jabbari, R, Nielsen, M, Holst, AG, Nielsen, JB , Haunsø, S , Tfelt-Hansen, J , Svendsen, JH & Olesen, MS 2013, 'New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia', Circulation. Cardiovascular genetics, bind 6, nr. 5, s. 481-9. https://doi.org/10.1161/CIRCGENETICS.113.000118

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abstract = "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal, rare hereditary disease with an estimated prevalence of 1:10 000. The genetic variants that cause CPVT are usually highly penetrant. To date, about 189 variants in 5 genes (RYR2, CASQ2, CALM1, TRND, and KCNJ2) have been associated with CPVT pathogenesis.",

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AU - Haunsø, Stig

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AU - Svendsen, Jesper H

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AB - Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal, rare hereditary disease with an estimated prevalence of 1:10 000. The genetic variants that cause CPVT are usually highly penetrant. To date, about 189 variants in 5 genes (RYR2, CASQ2, CALM1, TRND, and KCNJ2) have been associated with CPVT pathogenesis.

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New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia

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