Review on the genetics of arrhythmogenic right ventricular dysplasia

Europace

Volumn 9, Issue 5, 2007, Pages 259-266

  Moric Janiszewska, Ewa ^a   Markiewicz Łoskot, Grazyna ^a  

^a MEDICAL UNIVERSITY OF SILESIA   (Poland)

Author keywords

Actinin 2 gene; Arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Desmoplakin gene; Laminin receptor 1 gene; Plakophilin 2 gene; Ryanodine receptor 2 gene; Transforming growth factor gene

Indexed keywords

DESMIN; DESMOCOLLIN; DESMOCOLLIN 2; DESMOGLEIN 2; DESMOPLAKIN; LAMININ RECEPTOR; LAMININ RECEPTOR 1; PLAKOPHILIN; PLAKOPHILIN 2; PROTEIN TYROSINE PHOSPHATASE; RYANODINE RECEPTOR 2; TRANSFORMING GROWTH FACTOR BETA3; UNCLASSIFIED DRUG;

ARRHYTHMOGENESIS; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME MAP; FAMILIAL DISEASE; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HEART RIGHT VENTRICLE DYSPLASIA; HEART RIGHT VENTRICLE DYSPLASIA TYPE 1; HEART RIGHT VENTRICLE DYSPLASIA TYPE 10; HEART RIGHT VENTRICLE DYSPLASIA TYPE 11; HEART RIGHT VENTRICLE DYSPLASIA TYPE 2; HEART RIGHT VENTRICLE DYSPLASIA TYPE 3; HEART RIGHT VENTRICLE DYSPLASIA TYPE 4; HEART RIGHT VENTRICLE DYSPLASIA TYPE 5; HEART RIGHT VENTRICLE DYSPLASIA TYPE 6; HEART RIGHT VENTRICLE DYSPLASIA TYPE 7; HEART RIGHT VENTRICLE DYSPLASIA TYPE 8; HEART RIGHT VENTRICLE DYSPLASIA TYPE 9; HEART VENTRICLE ARRHYTHMIA; HUMAN; LINKAGE ANALYSIS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONHUMAN; PATIENT MONITORING; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DEATH, SUDDEN, CARDIAC; DESMIN; DESMOCOLLINS; DESMOGLEINS; DESMOPLAKINS; HUMANS; MUTATION; PLAKOPHILINS; PROTEIN-TYROSINE-PHOSPHATASE; RECEPTORS, LAMININ; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TRANSFORMING GROWTH FACTOR BETA3;

EID: 34447579253     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/eum034     Document Type: Review

References (47)

1. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Brit Heart J 1994;71:215-8.
2. Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G et al. The gene for arrhythmogenic right ventricutar cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 1994;3:959-62.
3. Rampazzo A, Beffagna G, Nava A, Occhi G, Bauce B, Noiato M et al. Arrhythmogenic right ventricutar cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. Eur J Hum Genet 200;11:69-76.
4. Peters S, Peters H, Thierfelder L. Risk stratification of sudden cardiac death and malignant ventricutar arrhythmias in right ventricular dysplasia-cardiomyopathy. Int J Cardiol 1999;71:243-50.
5. Rampazzo A, Nava A, Erne P, Eberhard M, Vian E, Stomp P et al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum Mol Genet 1995;4:2151-4.
6. Severini GM, Krajinovic M, Pinamonti B, Sinagra G, Floretti P, Brunazzi MC et al. A new locus for the arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. Genomics 1996;31 193-200.
7. Rampazzo A, Nava A, Miorin M, Fonderico P, Pope B, Tiso N et al. ARVD4, a new locus for arrhythmogenic right ventricutar cardiomyopathy, maps to chromosome 2 long arm. Genomics 1997;45:259-63.
8. Ahmad F, Li D, Karibe A, Gonzalez O, Tapscott T, Hill R et al. Localization of a gene responsible for arrhythmogenic right ventricutar dysplasia to chromosome 3p23. Circulation 1998;98:2791-5.
9. Li D, Ahmad F, Gardner MJ, Weilbaecher D, Hill R, Karibe A et al. The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. Am J Hum Genet 2000;66 148-56.
10. Melberg A, Oldfors A, Blomstrom-Lundqvist C, Stalberg E, Carlsson B, Larsson E et al. Autosomat dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol 1999;46:684-92.
11. Olavesen MG, Bentley E, Mason RVF, Stephens RJ, Ragoussis J. Fine mapping of 39 ESTs on human chromosome 6p23-p25. Genomics 1997; 46:303-6.
12. Bonne S, van Henget J, van Roy F. Chromosomal. mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily. Genomics 1998;51:452-4.
13. Arnemann J, Spurr NK, Magee AI, Buxton RS. The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18. Genomics 1992;13:484-6.
14. Greenwood MD, Marsden MD, Cowley CME, Sahota VK, Buxton RS. Exon-intron organization of the human type 2 desmocollin gene (DSC2): Desmocollin gene structure is closer to 'classical' cadherins than to desmogleins. Genomics 1997;44:330-5.
15. Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C et al. Regulatory mutations in transforming growth factor-beta-3 gene cause arrhythmogenic right ventricutar cardiomyopathy type 1. Cardiovasc Res 2005; 65:366-73.
16. Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001;10:189-94.
17. Asano Y, Takashima S, Asakura M, Shintani Y, Liao Y, Minamino T et al. Lamr1 functional retroposon causes right ventricutar dysplasia in mice. Nat Genet 2004;36:123-30.
18. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002;71:1200-6.
19. Grossmann KS, Grund C, Huelsken J, Behrend M, Erdmann B, Franke WW et al. Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol 2004;167:149-60.
20. Gerull, B, Heuser A, Wichter T, Paul M, Basson Cr, McDermott DA et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricutar cardiomyopathy. Nat Genet 2004; 36: 62-1164.
21. Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C et al. DSG2 mutations contribute to arrhythmogenic right ventricular dysptasia/cardiomyopathy. Am J Hum Genet 2006;79:136-42.
22. Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 2006;79:978-84.
23. ten Dijke P, Geurts van Kessel AM, Foulkes JG, Le Beau MM. Transforming growth factor type beta-3 maps to human chromosome 14, region q23-q24. Oncogene 1988;3:721-4.
24. Moren A, Ichijo H, Miyazono K. Molecular cloning and characterization of the human and porcine transforming growth factor-beta type III receptors. Biochem Biophys Res Commun 1992;189:356-62.
25. Frances R, Rodriguez Benitez AMR, Cohen DR. Arrhythmogenic right ventricular dysplasia and anterior polar cataract. Am J Med Genet 1997;73:125-6.
26. Marx SO, Reiken S, Hisamatsu Y. Jayaraman T, Burkhoff D, Rosemblit N et al. PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): Defective regulation in failing hearts. Cell 2000;101:365-76.
27. Tiso N, Salamon M, Bagattin A, Danieli GA, Argenton F, Bortolussi M. The binding of the RyR2 calcium channel to its gating protein FKBP126 is oppositely affected by ARVD2 and VTSIP mutations. Biochem Biophys Res Commun 2002;299:594-8.
28. Wehrens XHT, Lehnart SE, Huang F, Vest JA, Reiken SR, Mohler PJ et al. FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exerdse-induced sudden cardiac death. Cell 2003;113:829-40.
29. Kirsch LR, Weinstock DJ, Magid MS, Levin AR, Gold JP. Treatment of presumed arrhythmogenic right ventricutar dysplasia in an adolescent. Chest 1993;104:298-300.
30. Jackers P, Minoletti F, Belotti D, Clausse N, Sozzi G, Sobel ME et al. Isolation from a multigene family of the active human gene of the metastasis-associated multifunctional protein 37LRP/p40 at chromosome 3p21.3. Oncogene 1996;13:495-503.
31. Li D, Gonzalez O, Bachinski LL, Roberts R. Human protein tyrosine phosphatase-like gene: Expression profile, genomic structure, and mutation analysis in families with ARVD. Gene 2000;256 237-43.
32. Uwanogho DA, Hardcastle Z, Balogh P. Mirza G, Thornburg KL, Ragoussis J et al. Molecular cloning, chromosomal mapping, and developmental expression of a novel protein tyrosine phosphatase-like gene. Genomics 1999;62:406-16.
33. Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N. Schreiber G, Hanefeld F et al. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neural 2004;55:676-86.
34. Viegas-Pequignot E, Lin LZ, Dutrillaux B, Apiou F, Paulin D. Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization. Hum Genet 1989;83:33-6.
35. Li Z, Lilienbaum A, Butter-Browne G, Paulin D. Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development. Gene 1989; 78 243-54.
36. Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005;57:269-76.
37. Schroder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS et al. On noxious desmin: Functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet 2003;12:657-69.
38. Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H et al. Loss of desmoplakin isoform 1 causes early onset cardiomyopathy and heart failure in a Naxoslike syndrome (Letter). J Med Genet 2006;43:e5.
39. Yang Z, Bowles NE, Scherer SE, Taylor MD, Kearney DL, Ge S et al. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricutar dysplasia/cardiomyopathy. Circ Res 2006;99: 646-55.
40. Mertens C, Hofmann I, Wang Z, Teichmann M, Sepehri Chong S, Schnoizer M et al. Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2. Proc Nat Acad Sci 2001;98:7795-800.
41. 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 plakophitin-2. Circulation 2006;113: 1641-9.
42. 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;65:384-98.
43. Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006;113 1171-9.
44. Buxton RS, Wheeler GN, Pidsley SC, Marsden MD, Adams MJ, Jenkins NA et al. Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18. Genomics 1994;21:510-16.
45. Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T et al. Mutant desmocollin-2 causes arrhythmogenic right ventricutar cardiomyopathy. Am J Hum Genet 2006;79:1081-8.
46. 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;40:1445-50.
47. Zipes DP, Camm AJ, Borggrefe M, Buxton AE, Chaitman B, Framer M et al. Guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Executive Summary. Rev Esp Cardiol 2006;59:1328.