Targeted resequencing of genes associated with long QT syndrome in Czech patients: two newly identified likely pathogenic variants in previously investigated patient with negative results

Synková,  Iva; Ostadalova, E.; Valášková,  Iveta; Gaillyová,  Renata; Novotný,  Tomáš; Andršová,  Irena; Florianova, A.; Vit, P.

Targeted resequencing of genes associated with long QT syndrome in Czech patients: two newly identified likely pathogenic variants in previously investigated patient with negative results

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Authors	SYNKOVÁ Iva OSTADALOVA E. VALÁŠKOVÁ Iveta GAILLYOVÁ Renata NOVOTNÝ Tomáš ANDRŠOVÁ Irena FLORIANOVA A. VIT P.
Year of publication	2019
Type	Conference abstract
MU Faculty or unit	Faculty of Medicine
Citation
Description	Long QT syndrome (LQTS) is a hereditary arrhythmic syndrome characterized by abnormal prolongation of QT interval, increased risk of malignant ventricular arrhythmias and sudden death. With the prevalence 1:2000 it is the most often diagnosed arrhythmogenic disorder. At least 15 LQTS-related genes have been identified so far, nevertheless 75% of mutations are found in 3 major genes (KCNQ1, KCNH2 and SCN5A). Here we report identification of likely pathogenic variants in patient previously investigated with negative results.
Related projects:	Klinický význam a elektrofyziologické zhodnocení mutace c.926C>T genu KCNQ1 (p.T309I) jako možné „founder mutation“ syndromu dlouhého intervalu QT