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 and 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, vol. 7, No 4, p. 531-533. ISSN 1547-5271. Available from: https://dx.doi.org/10.1016/j.hrthm.2009.11.034.

Basic information

• Original name: A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters
• Authors: KAŇOVSKÝ, Jan (203 Czech Republic, guarantor, belonging to the institution), Tomáš NOVOTNÝ (203 Czech Republic, belonging to the institution), Jitka KADLECOVÁ (203 Czech Republic, belonging to the institution) and Renata GAILLYOVÁ (203 Czech Republic, belonging to the institution).
• Edition: Heart Rhythm, USA, Elsevier Science, 2010, 1547-5271.

Other information

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: 30201 Cardiac and Cardiovascular systems
• Country of publisher: United States of America
• Confidentiality degree: is not subject to a state or trade secret
• Impact factor: Impact factor: 4.246
• RIV identification code: RIV/00216224:14110/10:00064822
• Organization unit: Faculty of Medicine
• Doi: http://dx.doi.org/10.1016/j.hrthm.2009.11.034
• UT WoS: 000276190000018
• Keywords in English: KCNQ1; Jervel Lange-Nielsen syndrome; Romano-Ward syndrome
• Tags: International impact

Abstract

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.

Links

• NR9340, research and development project: Name: Výskyt polymorfizmů genů pro iontové kanály myokardu ve vztahu k náhlé srdeční smrti u pacientů se strukturálním onemocněním srdce

Investor: Ministry of Health of the CR