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

67 Citations (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.

Original language	English
Journal	Circulation. Cardiovascular genetics
Volume	6
Issue number	5
Pages (from-to)	481-9
Number of pages	9
ISSN	1942-325X
DOIs	https://doi.org/10.1161/CIRCGENETICS.113.000118
Publication status	Published - Oct 2013

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10.1161/CIRCGENETICS.113.000118

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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, vol. 6, no. 5, pp. 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 - Nielsen, Jonas B

AU - Haunsø, Stig

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AU - Svendsen, Jesper H

AU - Olesen, Morten S

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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

Abstract

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