PubMed 25174857

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ1 , Kv7.1

Title: First report of a large duplication of the KCNQ1 gene in a patient with long QT syndrome.

Authors: Arnon Adler, Shaheen Uppal, Nathan Orr, Foad Alzoughool, Michael H Gollob

Journal, date & volume: Can J Cardiol, 2014 Oct , 30, 1249.e5-7

PubMed link:

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.