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

a 2019

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, E. OSTADALOVA, Iveta VALÁŠKOVÁ, Renata GAILLYOVÁ, Tomáš NOVOTNÝ et. al.

Základní údaje

Originální název

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

Autoři

SYNKOVÁ, Iva (203 Česká republika, garant, domácí), E. OSTADALOVA (203 Česká republika), Iveta VALÁŠKOVÁ (203 Česká republika, domácí), Renata GAILLYOVÁ (203 Česká republika, domácí), Tomáš NOVOTNÝ (203 Česká republika, domácí), Irena ANDRŠOVÁ (203 Česká republika, domácí), A. FLORIANOVA (203 Česká republika) a P. VIT (203 Česká republika)

Vydání

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), 2019

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

10601 Cell biology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.657

Kód RIV

RIV/00216224:14110/19:00108629

Organizační jednotka

Lékařská fakulta

ISSN

UT WoS

000489313107120

Klíčová slova anglicky

long QT syndrome

Štítky

rivok

Příznaky

Mezinárodní význam

Změněno: 14. 4. 2020 10:59, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

NV16-30571A, projekt VaV

Název: Klinický význam a elektrofyziologické zhodnocení mutace c.926C>T genu KCNQ1 (p.T309I) jako možné „founder mutation“ syndromu dlouhého intervalu QT

Citovat

SYNKOVÁ, Iva, E. OSTADALOVA, Iveta VALÁŠKOVÁ, Renata GAILLYOVÁ, Tomáš NOVOTNÝ, Irena ANDRŠOVÁ, A. FLORIANOVA a P. VIT. 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. In 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG). 2019. ISSN 1018-4813.

@proceedings{1645057,
   author = {Synková, Iva and Ostadalova, E. and Valášková, Iveta and Gaillyová, Renata and Novotný, Tomáš and Andršová, Irena and Florianova, A. and Vit, P.},
   booktitle = {51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)},
   keywords = {long QT syndrome},
   language = {eng},
   title = {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},
   url = {https://www.nature.com/articles/s41431-019-0408-3},
   year = {2019}
}

TY  - CONF
ID  - 1645057
AU  - Synková, Iva - Ostadalova, E. - Valášková, Iveta - Gaillyová, Renata - Novotný, Tomáš - Andršová, Irena - Florianova, A. - Vit, P.
PY  - 2019
TI  - 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
KW  - long QT syndrome
UR  - https://www.nature.com/articles/s41431-019-0408-3
L2  - https://www.nature.com/articles/s41431-019-0408-3
N2  - 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.
ER  -

SYNKOVÁ, Iva, E. OSTADALOVA, Iveta VALÁŠKOVÁ, Renata GAILLYOVÁ, Tomáš NOVOTNÝ, Irena ANDRŠOVÁ, A. FLORIANOVA a P. VIT. 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. In \textit{51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)}. 2019. ISSN~1018-4813.

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