Abstract | BACKGROUND: MATERIALS AND METHODS: This paper is a summary of our experience with DNA-based diagnostics of LQTS since the autumn of 2003. The diagnostic analyses are performed by sequencing the exons of five genes, KCNQ1, HERG, SCN5A, minK and MiRP1. RESULTS AND INTERPRETATIONS: As of mid-January 2005, 56 probands with long QT syndrome have been referred for genetic testing. We have identified an underlying mutation in 64% of the patients. Mutations in the KCNQ1 gene are most frequent in Norwegian long QT syndrome patients, as 61% of the patients have their mutation in this gene. The detection of a mutation in the probands has led to genetic testing of 215 relatives; 99 out of these are heterozygous for the mutation present in the family. Heterozygous patients have been referred to a cardiologist. Of the 43 that have been referred to follow up at the department of cardiology at Rikshospitalet, 35 have started treatment with beta blockers to reduce the risk of arrhythmias. Thus, DNA-based diagnostics has clinical significance leading to prophylactic treatment of long QT syndrome patients. Compared to evaluation of ECG, which is negative in 30% of mutation carriers, the sensitivity of DNA-based diagnostics of relatives of probands with a known mutation, is close to 1.
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Authors | Knut Erik Berge, Kristina Hermann Haugaa, Ole-Gunnar Anfinsen, Andreas Früh, Maria Hallerud, Christoffer Jonsrud, Nina Øyen, Knut Gjesdal, Jan P Amlie, Trond P Leren |
Journal | Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
(Tidsskr Nor Laegeforen)
Vol. 125
Issue 20
Pg. 2783-6
(Oct 20 2005)
ISSN: 0807-7096 [Electronic] Norway |
Vernacular Title | Genteknologisk diagnostikk av lang QT-tid-syndrom. |
PMID | 16244680
(Publication Type: Comparative Study, Journal Article)
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Chemical References |
- ERG1 Potassium Channel
- Ether-A-Go-Go Potassium Channels
- KCNE2 protein, human
- KCNH2 protein, human
- KCNQ Potassium Channels
- KCNQ1 Potassium Channel
- KCNQ1 protein, human
- NAV1.5 Voltage-Gated Sodium Channel
- Potassium Channels, Voltage-Gated
- SCN5A protein, human
- Sodium Channels
- MINK1 protein, human
- Protein Serine-Threonine Kinases
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Topics |
- Adult
- Child
- DNA Mutational Analysis
- ERG1 Potassium Channel
- Electrocardiography
- Ether-A-Go-Go Potassium Channels
- Exons
(genetics)
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Infant
- Introns
(genetics)
- KCNQ Potassium Channels
- KCNQ1 Potassium Channel
- Long QT Syndrome
(diagnosis, drug therapy, genetics)
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel
- Potassium Channels, Voltage-Gated
(genetics)
- Protein Serine-Threonine Kinases
(genetics)
- Risk Factors
- Sequence Analysis, DNA
- Sodium Channels
(genetics)
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