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学科主题: 临床医学
题名:
Mutations of Plakophilin-2 in Chinese With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
作者: Qiu, Xiaoliang2; Liu, Wenling2; Hu, Dayi2; Zhu, Tiangang2; Li, Cuilan2; Li, Lei2; Guo, Chengjun4; Liu, Xingpeng4; Wang, Lei3; Zheng, Hua5; Wang, Chunling6; Diao, Qing7; Shi, Dan; Zhan, Pingyun9; Deng, Yuanming10; Liu, Kunshen11; Wang, Yi12; Liu, Baomin1; Liu, Hongming13; Zhang, Li1,14
刊名: AMERICAN JOURNAL OF CARDIOLOGY
发表日期: 2009-05-15
DOI: 10.1016/j.amjcard.2009.01.356
卷: 103, 期:10, 页:1439-1444
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Cardiac & Cardiovascular Systems
研究领域[WOS]: Cardiovascular System & Cardiology
关键词[WOS]: MISSENSE MUTATIONS ; PLAKOGLOBIN CAUSES ; CARDIOMYOPATHY ; GENE ; IDENTIFICATION ; DESMOCOLLIN-2 ; DYSPLASIA ; FAMILIES
英文摘要:

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart muscle disease associated with increased risks of sudden death, particularly in young, otherwise healthy, patients. The pathologic features are progressive myocardial atrophy and fibrofatty replacement. Plakophilin-2 (PKP2) is reported as the most common ARVD/C-causing gene in Western countries. In this study we aimed to determine the prevalence of PKP2 mutations in Chinese patients with ARVD/C and their phenotype characteristics. Genotype and phenotype were investigated in a cohort of 18 unrelated Chinese patients with a clinical diagnosis of ARVD/C. Direct sequencing of PKP2 led to the identification of 5 novel heterozygous mutations (R158K, Q211X, L419S, A793D, and N852fsX930) in 39% of patients (7 of 18) with ARVD/C. Among them, N852fsX930 was found in 3 unrelated young patients who presented with symptomatic ventricular tachyarrhythmia. Nevertheless, no significant difference could be detected between patients with ARVD/C with (n = 7) and without (n = 11) PKP2 mutations with regard to the phenotype characteristics and clinical outcomes. Decreased penetrance was prominent in family members. In conclusion, 5 novel PKP2 mutations were identified in a cohort of symptomatic Chinese patients with ARVD/C. N852fsX930 appeared to be a hot-spot mutation in which patients presented with a severe ARVD/C phenotype, and 2/3 had early onset of arrhythmic events. No significant difference was found in phenotype characteristics between patients with ARVD/C with and without PKP2 mutations. The decreased penetrance indicated that an ARVD/C diagnosis cannot solely rely on genotyping results. (c) 2009 Elsevier Inc. All rights reserved. (Am J Cardiol 2009;103:1439-1444)

语种: 英语
所属项目编号: 2007CB512103 ; 985-2-034-24 ; AHA0735474N
项目资助者: 973 Program of China, Beijing, China ; 985 Project of China, Beijing, China ; American Heart Association, Dallas, Texas
WOS记录号: WOS:000266413400020
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65988
Appears in Collections:北京大学第二临床医学院_心外科_期刊论文

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作者单位: 1.Friendship Hosp, Beijing, Peoples R China
2.Anzhen Hosp, Beijing, Peoples R China
3.Capital Med Univ, Tongren Hosp, Beijing, Peoples R China
4.Meitan Gen Hosp, Beijing, Peoples R China
5.Liaoning Fifth Peoples Hosp, Shenyang, Liaoning, Peoples R China
6.Shenzhen Peoples Hosp, Shenzhen, Guangdong, Peoples R China
7.Xi An Jiao Tong Univ, Coll Med, Affiliated Hosp 2, Xian 710049, Peoples R China
8.Peking Univ, Ctr Heart, Peoples Hosp, Beijing 100871, Peoples R China
9.Haidu Hosp, Nanan, Fujian Province, Peoples R China
10.Yingcheng Peoples Hosp, Yincheng, Hubei, Peoples R China
11.Hebei Med Univ, Hosp 1, Shijiazhuang, Hubei, Peoples R China
12.Third Peoples Hosp, Wenzhou, Zhejiang, Peoples R China
13.Bayannaoer Municipal Hosp, Bayannaoer, Inner Mongolia, Peoples R China
14.Main Line Hlth Heart Ctr, Philadelphia, PA USA

Recommended Citation:
Qiu, Xiaoliang,Liu, Wenling,Hu, Dayi,et al. Mutations of Plakophilin-2 in Chinese With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy[J]. AMERICAN JOURNAL OF CARDIOLOGY,2009,103(10):1439-1444.
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