Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy

Chinese Medical Journal

Volumn 122, Issue 4, 2009, Pages 403-407

  Wu, Shu Lin ^a   Wang, Pei Ning ^a   Hou, Yue Shuang ^a   Zhang, Xu Chao ^a   Shan, Zhi Xin ^a   Yu, Xi Yong ^a   Deng, Mei ^a  

^a GUANGDONG PROVINCIAL PEOPLE'S HOSPITAL   (China)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; Mutation; Plakophilin 2 gene

Indexed keywords

GENOMIC DNA; PLAKOPHILIN; PLAKOPHILIN 2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; DESMOSOME; DNA ISOLATION; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; MALE; POLYMERASE CHAIN REACTION; QT DISPERSION; QT INTERVAL; ASIAN; CHILD; CHINA; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PLAKOPHILINS;

EID: 65649115789     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2009.04.009     Document Type: Article

References (19)

1. Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation 1982; 65: 384-398.
2. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 1988; 318: 129-133.
3. Hulot JS, Jouven X, Empana JP, Frank R, Fontaine G. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Circulation 2004; 110: 1879-1884.
4. Dalal D, Nasir K, Bomma C, Prakasa K, Tandri H, Piccini J, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation 2005; 112: 3823-3832.
5. Garrod DR. Desmosomes and hemidesmosomes. Curr Opin Cell Biol 1993; 5: 30-40.
6. Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004; 36: 1162-1164.
7. Awad MM, Dalal D, Tichnell C, James C, Tucker A, Abraham T, et al. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat 2006; 27: 1157.
8. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, et al. 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 1994; 71: 215-218.
9. Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002; 40: 1445-1450.
10. Sen-Chowdhry S, Syrris P, McKenna WJ. Genetics of right ventricular cardiomyopathy. J Cardiovasc Electrophysiol 2005; 16: 927-935.
11. Lahtinen AM, Lehtonen A, Kaartinen M, Toivonen L, Swan H, Widén E, et al. Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy. Int J Cardiol 2008; 126: 92-100.
12. Corrado D, Fontaine G, Marcus FI, McKenna WJ, Nava A, Thiene G, et al. Arrhythmogenic right ventricular cardiomyopathy: need for an international registry. Circulation 2000; 101: E101-E106.
13. van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2006; 113: 1650-1658.
14. Dalal D, James C, Devanagondi R, Tichnell C, Tucker A, Prakasa K, et al. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2006; 48: 1416-1424.
15. Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, et al. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2000; 36: 2226-2233.
16. Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002; 40: 1445-1450.
17. Kannankeril PJ, Bhuiyan ZA, Darbar D, Mannens MM, Wilde AA, Roden DM. Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family. Heart Rhythm 2006; 3: 939-944.
18. Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, et al. Clinical features of arrhythmogenic right ventricular dysplasia/ cardiomyopathy associated with mutations in plakophilin-2. Circulation 2006; 113: 1641-1649.
19. Antoniades L, Tsatsopoulou A, Anastasakis A, Syrris P, Asimaki A, Panagiotakos D, et al. Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. Eur Heart J 2006; 27: 2208-2216.