Cardiac ion channel gene mutations in Greek long QT syndrome patients |
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Authors: | C -M Kotta A Anastasakis K Gatzoulis J Papagiannis P Geleris C Stefanadis |
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Institution: | (1) Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, 430074 Hubei, PR China;(2) Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, and Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, 44195 Ohio, USA;(3) Department of Internal Medicine, LDS Hospital and University of Utah School of Medicine, Salt Lake City, 84103 Utah, USA;(4) Department of Pediatric Cardiology, University of Florida Health Science Center, Jacksonville, FL, USA |
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Abstract: | The long QT syndrome (LQTS) is an inherited cardiac arrhythmia that may lead to sudden death in the absence of structural
heart disease. Mutations in the cardiac potassium and sodium channel genes can be found in approximately 70% of patients with
a highly probable clinical diagnosis. In this study, we aimed to genotype and explore the yield of genetic testing of LQTS
patients from Greece, for whom there are no collective published data available. We clinically evaluated and genetically screened
17 unrelated patients for mutations in theKCNQ1, KCNH2, SCN5A, KCNE1, andKCNE2 cardiac ion channel genes. Genetic testing was positive in 6 out of 8 patients with a highly probable clinical diagnosis
of LQTS and negative for all the other patients. Two patients carriedKCNQ1 mutations (c.580G>C, c.1022C>T), while 4 patients carriedKCNH2 mutations (c.202T>C, c.1714G>A, c.3103delC, c.3136C>T). To the best of our knowledge, the last mentioned mutation (c.3136C>T)
is novel. Moreover, 27 single-nucleotide polymorphisms (SNPs) were detected, 5 of which are novel. Our preliminary data indicate
a low genetic diversity of the Greek LQTS genetic pool, and are in accordance with international data that genetic testing
of the major LQTS genes is efficient in genotyping the majority of patients with a strong clinical diagnosis. Therefore, the
transition of an LQTS genetic screening program from research to the diagnostic setting within our ethnic background is feasible. |
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