Why the study?
Does mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes identify disease-causing mutations in a Long QT Syndrome family?
Does mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes identify disease-causing mutations in a Long QT Syndrome family?
Screening of 5 known LQTS-associated genes in a family did not identify a causative mutation, suggesting the existence of undiscovered LQTS-associated genes.
Answers are grounded in this paper and cite their sources.
Negative LQTS gene screening in this family leaves open novel causative loci; hypothesis-generating for expanded genetic discovery.
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.
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Koo et al. (2007) studied this question.
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