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

Synková,  Iva; Valášková,  Iveta; Gaillyová,  Renata; Novotný,  Tomáš; Bébarová,  Markéta; Andršová,  Irena; Florianova, A.; Vít,  Pavel; Navratil, R.

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

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Authors	SYNKOVÁ Iva VALÁŠKOVÁ Iveta GAILLYOVÁ Renata NOVOTNÝ Tomáš BÉBAROVÁ Markéta ANDRŠOVÁ Irena FLORIANOVA A. VÍT Pavel NAVRATIL R.
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 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.
Related projects:	Klinický význam a elektrofyziologické zhodnocení mutace c.926C>T genu KCNQ1 (p.T309I) jako možné „founder mutation“ syndromu dlouhého intervalu QT