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学科主题临床医学
A novel deletion-frameshift mutation in the Si region of HERG gene in a Chinese family with long QT syndrome
Gao Ying; Zhang Ping; Li Xue-bin; Wu Cun-cao; Guo Ji-hong
关键词Deletion Mutation Herg Inherited Arrhythmia Long Qt Syndrome Nonsense Mediated Decay
刊名CHINESE MEDICAL JOURNAL
2013-08-20
DOI10.3760/cma.j.issn.0366-6999.20131307
126期:16页:3093-3096
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, General & Internal
资助者National Basic Research Program of China ; National Basic Research Program of China
研究领域[WOS]General & Internal Medicine
关键词[WOS]MESSENGER-RNA DECAY ; TRANSLATION ; REINITIATION ; CHANNELS ; PCR
英文摘要

Background The congenital Long QT syndrome (LQTS) is a hereditary cardiac channelopathy that is characterized by a prolonged QT interval, syncope, ventricular arrhythmias, and sudden death. The chromosome 7-linked type 2 congenital LQTS (LQT2) is caused by gene mutations in the human ether-a-go-go-related gene (HERG).

Methods A Chinese family diagnosed with LQTS were screened for KCNQ1, HERG and SCN5A, using polymerase chain reaction (PCR), direct sequencing, and clong sequencing. We also investigated the mRNA expression of the HERG gene.

Results We identified a novel I414fs+98X mutation in the HERG gene. The deletion mutation of 14-bp in the first transmembrane segment (S1) introduced premature termination codons (PTCs) at the end of exon 6. This mutation would result in a serious phenotype if the truncated proteins co-assembled with normal subunit to form the defective channels. But only the proband was symptomatic.

Conclusions We found that the mRNA level of the HERG gene was significantly lower in I414fs+98X carriers than in noncarriers. We found a novel I414fs+98X mutation. The mRNA level supports that NMD mechanism might regulate the novel mutation.

语种英语
所属项目编号2013BAI17B06
资助者National Basic Research Program of China ; National Basic Research Program of China
WOS记录号WOS:000327916100019
Citation statistics
Cited Times:1[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/56047
Collection北京大学第二临床医学院
作者单位Peking Univ, Peoples Hosp, Dept Cardiac Electrophysiol, Beijing 100044, Peoples R China
Recommended Citation
GB/T 7714
Gao Ying,Zhang Ping,Li Xue-bin,et al. A novel deletion-frameshift mutation in the Si region of HERG gene in a Chinese family with long QT syndrome[J]. CHINESE MEDICAL JOURNAL,2013,126(16):3093-3096.
APA Gao Ying,Zhang Ping,Li Xue-bin,Wu Cun-cao,&Guo Ji-hong.(2013).A novel deletion-frameshift mutation in the Si region of HERG gene in a Chinese family with long QT syndrome.CHINESE MEDICAL JOURNAL,126(16),3093-3096.
MLA Gao Ying,et al."A novel deletion-frameshift mutation in the Si region of HERG gene in a Chinese family with long QT syndrome".CHINESE MEDICAL JOURNAL 126.16(2013):3093-3096.
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