Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy

被引：0
作者：
K. A. Jacob
M. Noorman
M. G. P. J. Cox
J. A. Groeneweg
R. N. W. Hauer
M. A. G. van der Heyden
机构：
[1] University Medical Center Utrecht,Department of Medical Physiology, Division of Heart & Lungs
[2] University Medical Center Utrecht,Department of Cardiology, Division of Heart & Lungs
[3] Interuniversity Cardiology Institute of the Netherlands (ICIN),undefined
来源：
Netherlands Heart Journal | 2012年 / 20卷
关键词：
Cardiomyopathy; Plakophilin-2; Mutation; Desmosome; Prevalence; Geography;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Arrhythmogenic cardiomyopathy (AC) is characterised by myocardial fibrofatty tissue infiltration and presents with palpitations, ventricular arrhythmias, syncope and sudden cardiac death. AC is associated with mutations in genes encoding the desmosomal proteins plakophilin-2 (PKP2), desmoplakin (DSP), desmoglein-2 (DSG2), desmocollin-2 (DSC2) and junctional plakoglobin (JUP). In the present study we compared 28 studies (2004–2011) on the prevalence of mutations in desmosomal protein encoding genes in relation to geographic distribution of the study population. In most populations, mutations in PKP2 showed the highest prevalence. Mutation prevalence in DSP, DSG2 and DSC2 varied among the different geographic regions. Mutations in JUP were rarely found, except in Denmark and the Greece/Cyprus region.
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页码：234 / 239
页数：5
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  • [11] Blomstrom-Lundqvist C(1994)Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology Br Heart J. 71 215-8
  • [12] Noorman M(2011)Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia-associated mutations from background genetic noise J Am Coll Cardiol 57 2317-27
  • [13] Van der Heyden MAG(2005)Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1 Cardiovasc Res 65 366-73
  • [14] Van Veen TA(2001)Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2) Hum Mol Genet 10 189-94
  • [15] Cheng L(2008)Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene Am J Hum Genet 82 809-21
  • [16] Yung A(2011)Revised 2010 Task Force Criteria for ARVD/C diagnosis promote inclusion of non-desmosomal mutation carriers Circulation 124 A12326-71
  • [17] Covarrubias M(2011)Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy Genet Test Mol Biomarkers. 15 267-8
  • [18] Radice GL(2010)Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice Europace 12 861-20
  • [19] Gerull B(2007)Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression Circulation 115 1710-9
  • [20] Heuser A(2006)Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy Circulation 113 1171-42
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