Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F19%3A00108568" target="_blank" >RIV/00216224:14110/19:00108568 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/19:00072095
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant
Original language description
Long QT syndrome (LQTS) is a hereditary arrhythmic syndrome characterized by abnormal prolongation of QT interval, increased risk of ventricular arrhythmias, and sudden death. It is the most often diagnosed hereditary arrhythmic disorder with prevalence 1:2000. The KCNQ1 gene is one of the 3 major genes (KCNQ1, KCNH2 and SCN5A) which account for 75 % of the genetically identified LQTS cases. The same KCNQ1 mutation c.926C>T (p.T309I) was identified in 10 putatively unrelated families.
Czech name
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Czech description
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Project
<a href="/en/project/NV16-30571A" target="_blank" >NV16-30571A: Clinical significance and electrophysiological evaluation of KCNQ1 gene mutation c.926C>T (p.T309I) as a possible long QT syndrome founder mutation</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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