Abstract
Introduction:
Long QT syndrome (LQTS), an inherited cardiac arrhythmia, is a disorder of ventricular repolarisation characterised by electrocardiographic abnormalities and the onset of torsades de pointes leading to syncope and sudden death. Genetic polymorphisms in 5 well-characterised cardiac ion channel genes have been identified to be responsible for the disorder. The aim of this study is to identify disease-causing mutations in these candidate genes in a LQTS family.
Materials and methods:
The present study systematically screens the coding region of the LQTS-associated genes (KCNQ1, HERG, KCNE1, KCNE2 and SCN5A) for mutations using DNA sequencing analysis.
Results:
The mutational analysis revealed 7 synonymous and 2 non-synonymous polymorphisms in the 5 ion channel genes screened.
Conclusion:
We did not identify any clear identifiable genetic marker causative of LQTS, suggesting the existence of LQTS-associated genes awaiting discovery.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Child
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DNA Mutational Analysis
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ERG1 Potassium Channel
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Ether-A-Go-Go Potassium Channels / analysis
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Ether-A-Go-Go Potassium Channels / genetics*
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Female
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Frameshift Mutation
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Humans
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KCNQ1 Potassium Channel / analysis
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KCNQ1 Potassium Channel / genetics*
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Long QT Syndrome / genetics*
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Male
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Middle Aged
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Muscle Proteins / analysis
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Muscle Proteins / genetics*
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NAV1.5 Voltage-Gated Sodium Channel
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Polymorphism, Genetic / genetics*
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Potassium Channels, Voltage-Gated / analysis
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Potassium Channels, Voltage-Gated / genetics*
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Sodium Channels / analysis
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Sodium Channels / genetics*
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Trans-Activators
Substances
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ERG1 Potassium Channel
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Ether-A-Go-Go Potassium Channels
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KCNE1 protein, human
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KCNE2 protein, human
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KCNH2 protein, human
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KCNQ1 Potassium Channel
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KCNQ1 protein, human
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Muscle Proteins
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NAV1.5 Voltage-Gated Sodium Channel
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Potassium Channels, Voltage-Gated
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SCN5A protein, human
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Sodium Channels
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Trans-Activators