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CLC number: R541.7; R596.2

On-line Access: 2024-08-27

Received: 2023-10-17

Revision Accepted: 2024-05-08

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Journal of Zhejiang University SCIENCE B 2005 Vol.6 No.7 P.626-630

http://doi.org/10.1631/jzus.2005.B0626


A novel splice mutation of HERG in a Chinese family with long QT syndrome


Author(s):  SHANG Yun-peng, XIE Xu-dong, WANG Xing-xiang, CHEN Jun-zhu, ZHU Jian-hua, TAO Qian-min, ZHENG Liang-rong

Affiliation(s):  Department of Cardiovascular Diseases, First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China

Corresponding email(s):   chenjunz@zju.edu.cn

Key Words:  HERG gene, Long QT syndrome, Cardiac arrhythmia, C-terminus, Acceptor splice site mutation


SHANG Yun-peng, XIE Xu-dong, WANG Xing-xiang, CHEN Jun-zhu, ZHU Jian-hua, TAO Qian-min, ZHENG Liang-rong. A novel splice mutation of HERG in a Chinese family with long QT syndrome[J]. Journal of Zhejiang University Science B, 2005, 6(7): 626-630.

@article{title="A novel splice mutation of HERG in a Chinese family with long QT syndrome",
author="SHANG Yun-peng, XIE Xu-dong, WANG Xing-xiang, CHEN Jun-zhu, ZHU Jian-hua, TAO Qian-min, ZHENG Liang-rong",
journal="Journal of Zhejiang University Science B",
volume="6",
number="7",
pages="626-630",
year="2005",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.2005.B0626"
}

%0 Journal Article
%T A novel splice mutation of HERG in a Chinese family with long QT syndrome
%A SHANG Yun-peng
%A XIE Xu-dong
%A WANG Xing-xiang
%A CHEN Jun-zhu
%A ZHU Jian-hua
%A TAO Qian-min
%A ZHENG Liang-rong
%J Journal of Zhejiang University SCIENCE B
%V 6
%N 7
%P 626-630
%@ 1673-1581
%D 2005
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.2005.B0626

TY - JOUR
T1 - A novel splice mutation of HERG in a Chinese family with long QT syndrome
A1 - SHANG Yun-peng
A1 - XIE Xu-dong
A1 - WANG Xing-xiang
A1 - CHEN Jun-zhu
A1 - ZHU Jian-hua
A1 - TAO Qian-min
A1 - ZHENG Liang-rong
J0 - Journal of Zhejiang University Science B
VL - 6
IS - 7
SP - 626
EP - 630
%@ 1673-1581
Y1 - 2005
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.2005.B0626


Abstract: 
Congenital long QT syndrome (LQTS) is a genetically heterogeneous disease in which six ion-channel genes have been identified. The phenotype-genotype relationships of the HERG (human ether-a-go-go-related gene) mutations are not fully understood. The objective of this study is to identify the underlying genetic basis of a Chinese family with LQTS and to characterize the clinical manifestations properties of the mutation. Single strand conformation polymorphism (SSCP) analyses were conducted on DNA fragments amplified by polymerase chain reaction from five LQT-related genes. Aberrant conformers were analyzed by DNA sequencing. A novel splice mutation in c-terminus of HERG was identified in this Chinese LQTS family, leading to the deletion of 11-bp at the acceptor splice site of Exon9 [Exon9 IVS del (−12→−2)]. The mutation might affect, through deficient splicing, the putative cyclic nucleotide binding domain (CNBD) of the HERG K+ channel. This mutation resulted in a mildly affected phenotype. Only the proband had a history of syncopes, while the other three individuals with long QT interval had no symptoms. Two other mutation carriers displayed normal phenotype. No sudden death occurred in the family. The 4 affected individuals and the two silent mutation carriers were all heterozygous for the mutation. It is the first splice mutation of HERG reported in Chinese LQTS families. Clinical data suggest that the CNBD mutation may be less malignant than mutations occurring in the pore region and be partially dominant over wild-type function.

Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article

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