title: First report of a large duplication of the KCNQ1 gene in a patient with long QT syndrome.
abstract: Understanding the limitations of routine genetic testing protocols is of critical importance for the clinician. Standard DNA sequencing protocols are a reliable method for the detection of single point mutations or small insertions and deletions. However, these protocols cannot detect the presence of large genomic rearrangements that might affect culprit genes. This failure might lead to the questioning of a diagnosis, or prevent familial cascade screening. We present the first report of a large genomic duplication affecting the KCNQ1 gene in a patient with a robust phenotype of long QT syndrome who was first reported to have negative genetic results.
authors.affiliation: Inherited Arrhythmia Clinic and Arrhythmia Research Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
authors.forename: Arnon
authors.initials: A
authors.lastname: Adler
authors.affiliation: Inherited Arrhythmia Clinic and Arrhythmia Research Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
authors.forename: Shaheen
authors.initials: S
authors.lastname: Uppal
authors.affiliation: Inherited Arrhythmia Clinic and Arrhythmia Research Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
authors.forename: Nathan
authors.initials: N
authors.lastname: Orr
authors.affiliation: Inherited Arrhythmia Clinic and Arrhythmia Research Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
authors.forename: Foad
authors.initials: F
authors.lastname: Alzoughool
authors.affiliation: Inherited Arrhythmia Clinic and Arrhythmia Research Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario, Canada. Electronic address: mgollob@ottawaheart.ca.
authors.forename: Michael H
authors.initials: MH
authors.lastname: Gollob
mesh_terms: D004562:Electrocardiography; D020131:Genes, Duplicate; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human