Department of Biomedical Sciences, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
J Korean Med Sci. 2013 Sep;28(9):1388-93. doi: 10.3346/jkms.2013.28.9.1388. Epub 2013 Aug 28.
Long 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.
长 QT 综合征（LQTS）的特征是心电图 QT 间期延长，并表现出易发生危及生命的心律失常的倾向，这往往导致心源性猝死。我们遇到了一个有 5 名受影响家庭成员的 3 代家族，其中 LQTS 呈常染色体显性遗传。LQTS 被认为是一种离子通道疾病，其中基因突变的类型和位置在很大程度上决定了临床综合征的表现。在对心脏钾离子通道基因的基因组序列进行筛选后，我们发现 KCNH2 基因外显子 3 中的一个单核苷酸 C 缺失突变与该家族的 LQTS 共分离。这种突变可能导致移码突变，即 P151fs+15X。本研究为导致心脏钾离子通道缺陷的突变库增加了一个新的遗传原因。
