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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
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
WOS记录号WOS:000327916100019
项目编号2013BAI17B06
资助机构National Basic Research Program of China
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被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/56047
专题北京大学第二临床医学院
北京大学临床肿瘤学院_药剂科
作者单位Peking Univ, Peoples Hosp, Dept Cardiac Electrophysiol, Beijing 100044, Peoples R China
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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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