• Jong Keun Park, Yong-Seog Oh, Jee-hyun Choi, and Sungjoo Kim Yoon.
• Department of Biomedical Sciences, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
• J. Korean Med. Sci. 2013 Sep 1; 28 (9): 138813931388-93.

AbstractLong QT syndrome (LQTS) is characterized by the prolongation of the QT interval in ECG and manifests predisposition to life threatening arrhythmia which often leads to sudden cardiac death. We encountered a 3-generation family with 5 affected family members in which LQTS was inherited in autosomal dominant manner. The LQTS is considered an ion channel disorder in which the type and location of the genetic mutation determines to a large extent the expression of the clinical syndrome. Upon screening of the genomic sequences of cardiac potassium ion channel genes, we found a single nucleotide C deletion mutation in the exon 3 of KCNH2 gene that co-segregates with the LQTS in this family. This mutation presumably resulted in a frameshift mutation, P151fs+15X. This study added a new genetic cause to the pool of mutations that lead to defected potassium ion channels in the heart.

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