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学科主题: 临床医学
题名:
A novel deletion-frameshift mutation in the Si region of HERG gene in a Chinese family with long QT syndrome
作者: 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
发表日期: 2013-08-20
DOI: 10.3760/cma.j.issn.0366-6999.20131307
卷: 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
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
项目资助者: National Basic Research Program of China
WOS记录号: WOS:000327916100019
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56047
Appears in Collections:北京大学第二临床医学院_期刊论文

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作者单位: Peking Univ, Peoples Hosp, Dept Cardiac Electrophysiol, Beijing 100044, Peoples R China

Recommended Citation:
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.
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