IR@PKUHSC  > 北京大学第二临床医学院
学科主题临床医学
Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy
Liu, Wen1; Liu, Wenling1; Hu, Dayi1; Zhu, Tiangang1; Ma, Zhanfeng1; Yang, Jie1; Xie, Wenli2; Li, Cuilan1; Li, Lei1; Yang, Jingang3; Li, Tianchang3; Bian, Hong3; Tong, Qiguang3
刊名AMERICAN JOURNAL OF CARDIOLOGY
2013-08-15
DOI10.1016/j.amjcard.2013.04.021
112期:4页:585-589
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]MYOSIN HEAVY-CHAIN ; MOLECULAR-GENETIC BASIS ; BINDING PROTEIN-C ; SUDDEN-DEATH ; PROGNOSTIC IMPLICATIONS ; COMPOUND ; PREVALENCE ; DISEASE
英文摘要

Hypertrophic cardiomyopathy (HC) is a hereditary heterogeneous cardiovascular disorder. Existing data have been of predominantly Caucasian samples, and a large study is needed in Chinese population. The present study was intended to explore the genetic basis and clinical characteristics correlated with different genotypes in a large cohort of Chinese patients. Direct gene sequencing of beta-myosin heavy chain (MYH7), myosin binding protein-C (MYBPC3), and cardiac troponin T (TNNT2) was performed in 136 unrelated Chinese HC patients. Clinical evaluations were conducted. In total, 32 mutations were identified in 36 patients (27%), including 10 novel ones. Distribution of mutations was 56% (MYBPC3), 31% (MYH7), and 13% (TNNT2), respectively. Double mutations were identified in 3% patients. The occurrence of HC-associated sarcomeric mutations was associated with an earlier age of onset, increased left ventricular hypertrophy, a higher incidence of syncope, previous family history,. and sudden cardiac death. No statistical difference was identified in patients carrying MYBPC3 and MYH7 mutations with regard to clinical characteristics and outcomes. Patients with double mutations were associated with malignant progression in the study. In conclusion, MYBPC3 is the most predominant gene in HC. Multiple mutations are common in MYH7, MYBPC3, and TNNT2. The present study suggests a large diversity of HC and a prognostic role of genotype. (C) 2013 Elsevier Inc. All rights reserved.

语种英语
WOS记录号WOS:000323407700021
项目编号81270166 ; 2009-2031 ; 985-2-034-24
资助机构National Natural Science Foundation of China ; Capital Development Fund Beijing, China ; Project 985, China
引用统计
被引频次:16[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/400002259/65744
专题北京大学第二临床医学院
北京大学医学部管理机构_医学部
北京大学第二临床医学院_心血管内科
作者单位1.Peking Univ, Peoples Hosp, Ctr Heart, Beijing 100871, Peoples R China
2.Beijing Elect Power Hosp, Beijing, Peoples R China
3.Capital Med Univ, Tongren Hosp, Beijing, Peoples R China
推荐引用方式
GB/T 7714
Liu, Wen,Liu, Wenling,Hu, Dayi,et al. Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy[J]. AMERICAN JOURNAL OF CARDIOLOGY,2013,112(4):585-589.
APA Liu, Wen.,Liu, Wenling.,Hu, Dayi.,Zhu, Tiangang.,Ma, Zhanfeng.,...&Tong, Qiguang.(2013).Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy.AMERICAN JOURNAL OF CARDIOLOGY,112(4),585-589.
MLA Liu, Wen,et al."Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy".AMERICAN JOURNAL OF CARDIOLOGY 112.4(2013):585-589.
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