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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F19%3A00108629" target="_blank" >RIV/00216224:14110/19:00108629 - isvavai.cz</a>

Výsledek na webu

<a href="https://www.nature.com/articles/s41431-019-0408-3" target="_blank" >https://www.nature.com/articles/s41431-019-0408-3</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

O - Ostatní výsledky

CEP obor

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OECD FORD obor

10601 - Cell biology

Projekt

<a href="/cs/project/NV16-30571A" target="_blank" >NV16-30571A: Klinický význam a elektrofyziologické zhodnocení mutace c.926C>T genu KCNQ1 (p.T309I) jako možné „founder mutation“ syndromu dlouhého intervalu QT</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2019

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů