title: Phenotype reveals genotype in a Greek long QT syndrome family.
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.
authors.affiliation: Division of Inherited Cardiovascular Diseases, 1st Department of Cardiology, University of Athens Medical School, l99 Michalakopoulou Street, Athens 11528, Greece.
authors.forename: Aris
authors.initials: A
authors.lastname: Anastasakis
authors.forename: Christina-Maria
authors.initials: CM
authors.lastname: Kotta
authors.forename: Stavros
authors.initials: S
authors.lastname: Kyriakogonas
authors.forename: Bernd
authors.initials: B
authors.lastname: Wollnik
authors.forename: Artemisia
authors.initials: A
authors.lastname: Theopistou
authors.forename: Christodoulos
authors.initials: C
authors.lastname: Stefanadis
mesh_terms: D002648:Child; D004562:Electrocardiography; D005838:Genotype; D006115:Greece; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D051657:KCNQ1 Potassium Channel