A new homozygous mutation of the KCNQ1 gene associated with
both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes
in two sisters

J 2010

A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters

KAŇOVSKÝ, Jan; Tomáš NOVOTNÝ; Jitka KADLECOVÁ a Renata GAILLYOVÁ

Základní údaje

Originální název

A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters

Autoři

KAŇOVSKÝ, Jan; Tomáš NOVOTNÝ ; Jitka KADLECOVÁ a Renata GAILLYOVÁ

Vydání

Heart Rhythm, USA, Elsevier Science, 2010, 1547-5271

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30201 Cardiac and Cardiovascular systems

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 4.246

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/10:00064822

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1016/j.hrthm.2009.11.034

UT WoS

000276190000018

Klíčová slova anglicky

KCNQ1; Jervel Lange-Nielsen syndrome; Romano-Ward syndrome

Příznaky

Mezinárodní význam

Změněno: 5. 10. 2012 09:49, Mgr. Michal Petr

Anotace

V originále

The mutations in the KCNQ1 gene (GenBank accession no. AF000571) encoding the subunit of the KCNQ1 channel can cause 2 different diseases: Romano-Ward syndrome (RWS), traditionally described as a combination of repeated syncope episodes and a prolonged QT interval, and the less frequent Jervell and Lange-Nielsen syndrome (JLNS), also associated (except for the abovementioned symptoms) with congenital bilateral deafness.1 The first one is usually associated with the heterozygous gene mutation, the latter one with the homozygous mutation. The disease prevalence is estimated at close to 1 in 2,500 live births, and JLNS has been reported to affect about 3 in 1 million individuals, which represents less than 1% of all long-QT syndrome (LQTS) patients.

Návaznosti

NR9340, projekt VaV

Název: Výskyt polymorfizmů genů pro iontové kanály myokardu ve vztahu k náhlé srdeční smrti u pacientů se strukturálním onemocněním srdce

Investor: Ministerstvo zdravotnictví ČR, Výskyt polymorfizmů genů pro iontové kanály myokardu ve vztahu k náhlé srdeční smrti u pacientů se strukturálním onemocněním srdce

Citovat

KAŇOVSKÝ, Jan; Tomáš NOVOTNÝ; Jitka KADLECOVÁ a Renata GAILLYOVÁ. A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters. Heart Rhythm. USA: Elsevier Science, 2010, roč. 7, č. 4, s. 531-533. ISSN 1547-5271. Dostupné z: https://doi.org/10.1016/j.hrthm.2009.11.034.

@article{919810,
   author = {Kaňovský, Jan and Novotný, Tomáš and Kadlecová, Jitka and Gaillyová, Renata},
   article_location = {USA},
   article_number = {4},
   doi = {https://doi.org/10.1016/j.hrthm.2009.11.034},
   keywords = {KCNQ1; Jervel Lange-Nielsen syndrome; Romano-Ward syndrome},
   language = {eng},
   issn = {1547-5271},
   journal = {Heart Rhythm},
   title = {A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters},
   volume = {7},
   year = {2010}
}

TY  - JOUR
ID  - 919810
AU  - Kaňovský, Jan - Novotný, Tomáš - Kadlecová, Jitka - Gaillyová, Renata
PY  - 2010
TI  - A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters
JF  - Heart Rhythm
VL  - 7
IS  - 4
SP  - 531-533
EP  - 531-533
PB  - Elsevier Science
SN  - 15475271
KW  - KCNQ1
KW  - Jervel Lange-Nielsen syndrome
KW  - Romano-Ward syndrome
N2  - The mutations in the KCNQ1 gene (GenBank accession no. AF000571) encoding the subunit of the KCNQ1 channel can cause 2 different diseases: Romano-Ward syndrome (RWS), traditionally described as a combination of repeated syncope episodes and a prolonged QT interval, and the less frequent Jervell and Lange-Nielsen syndrome (JLNS), also associated (except for the abovementioned symptoms) with congenital bilateral deafness.1 The first one is usually associated with the heterozygous gene mutation, the latter one with the homozygous mutation. The disease prevalence is estimated at close to 1 in 2,500 live births, and JLNS has been reported to affect about 3 in 1 million individuals, which represents less than 1% of all long-QT syndrome (LQTS) patients.
ER  -

KAŇOVSKÝ, Jan; Tomáš NOVOTNÝ; Jitka KADLECOVÁ a Renata GAILLYOVÁ. A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters. \textit{Heart Rhythm}. USA: Elsevier Science, 2010, roč.~7, č.~4, s.~531-533. ISSN~1547-5271. Dostupné z: https://doi.org/10.1016/j.hrthm.2009.11.034.

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