Phenotype reveals genotype in a Greek long QT syndrome family

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology
Aris AnastasakisChristodoulos Stefanadis

Abstract

We aimed to verify the long QT syndrome (LQTS) genotype in a family with strong evidence of LQTS type 1 (LQT1) on the basis of so far established genotype-phenotype correlations. Genetic testing for mutations in the KCNQ1 potassium channel gene revealed an A341V mutation in three generations of the family. Existing genotype-phenotype correlations were correctly predictive of the genotype in the case of this family, despite the fact that there are no previously reported data for the Greek LQTS genetic pool. Thus, genotype-phenotype correlations are often a helpful tool in the management of LQTS patients and their families.

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Citations

Nov 11, 2010·Journal of Applied Genetics·C-M KottaC Stefanadis
Apr 1, 2011·Science Translational Medicine·Christian JonsCoeli M B Lopes
Aug 23, 2011·Biochimica Et Biophysica Acta·Ikuomi MikuniWai-Meng Kwok
Jan 15, 2015·Anesthesiology·Ikuomi MikuniWai-Meng Kwok

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