Single Nucleotide Deletion Mutation of KCNH2 Gene is Responsible for LQT Syndrome in a 3-Generation Korean Family.
10.3346/jkms.2013.28.9.1388
- Author:
Jong Keun PARK
1
;
Yong Seog OH
;
Jee Hyun CHOI
;
Sungjoo Kim YOON
Author Information
1. Department of Biomedical Sciences, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea. sjkyoon@catholic.ac.kr
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
Arrhythmia, Cardiac;
Long QT Syndrome;
Frameshift Mutation
- MeSH:
Adolescent;
Adult;
Aged;
Aged, 80 and over;
Asian Continental Ancestry Group/*genetics;
DNA Mutational Analysis;
Ether-A-Go-Go Potassium Channels/*genetics;
Exons;
Female;
Frameshift Mutation;
Genotype;
Humans;
Long QT Syndrome/*diagnosis/genetics;
Male;
Middle Aged;
Pedigree;
Republic of Korea;
Sequence Deletion
- From:Journal of Korean Medical Science
2013;28(9):1388-1393
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
