Informace o publikaci
A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters
| Autoři | |
|---|---|
| Rok publikování | 2010 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Heart Rhythm |
| Fakulta / Pracoviště MU | |
| Citace | |
| Doi | http://dx.doi.org/10.1016/j.hrthm.2009.11.034 |
| Obor | Kardiovaskulární nemoci včetně kardiochirurgie |
| Klíčová slova | KCNQ1; Jervel Lange-Nielsen syndrome; Romano-Ward syndrome |
| Popis | 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. |
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