The ARVD/C genetic variants database: 2014 update

Human Mutation

Volumn 36, Issue 4, 2015, Pages 403-410

  Lazzarini, Elisabetta ^a,b   Jongbloed, Jan D H ^b   Pilichou, Kalliopi ^a   Thiene, Gaetano ^a   Basso, Cristina ^a   Bikker, Hennie ^c   Charbon, Bart ^b   Swertz, Morris ^b   van Tintelen, J Peter ^b,c,d   van der Zwaag, Paul A ^b  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d Durrer Center for Cardiogenetic Research   (Netherlands)

Author keywords

Cardiomyopathy; Database; Genetics

Indexed keywords

ALPHA CATENIN; ALPHA T CATENIN; CONNECTIN; DESMIN; LAMIN A; LAMIN C; MEMBRANE PROTEIN; PHOSPHOLAMBAN; RYANODINE RECEPTOR 2; TRANSFORMING GROWTH FACTOR BETA3; TRANSMEMBRANE PROTEIN 43; UNCLASSIFIED DRUG;

ARTICLE; CARDIAC PATIENT; DATA BASE; DESMOSOME; EXTRADESMOSOMAL GENE; GENE MUTATION; GENE NOMENCLATURE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; PRIORITY JOURNAL; GENETIC ASSOCIATION; GENETIC DATABASE; GENETICS; REGISTER;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DATABASES, GENETIC; DESMOSOMES; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HUMANS; REGISTRIES;

EID: 84925942763     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22765     Document Type: Article

References (56)

1. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, et al. 2011. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 13:1077-1109.
2. Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ. 2007. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 81:964-973.
3. Bao J, Wang J, Yao Y, Wang Y, Fan X, Sun K, He DS, Marcus FI, Zhang S, Hui R, Song L. 2013. Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy. Circ Cardiovasc Genet 6:552-556.
4. Basso C, Corrado D, Marcus FI, Nava A, Thiene G. 2009. Arrhythmogenic right ventricular cardiomyopathy. Lancet 373:1289-1300.
5. Basso C, Corrado D, Thiene G. 2010. Arrhythmogenic right ventricular cardiomyopathy: what's in a name? From a congenital defect (dysplasia) to a genetically determined cardiomyopathy (dystrophy). Am J Cardiol 106:275-277.
6. Bauce B, Basso C, Rampazzo A, Beffagna G, Daliento L, Frigo G, Malacrida S, Settimo L, Danieli G, Thiene G, Nava A. 2005. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 26:1666-1675.
7. Bauce B, Nava A, Beffagna G, Basso C, De Bortoli M, Rigato I, Mazzotti E, Steriotis A, Marra MP, Towbin JA, Thiene G, Danieli GA, Rampazzo A. 2010. Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm 7:22-29.
8. Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A. 2005. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 65:366-373.
9. Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, et al. 2013. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet 45:1044-1049.
10. Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JD, Murray B, Te Riele AS, vanden Berg MP, Bikker H, Atsma DE, deGroot NM, et al. 2015. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. Eur Heart J.[Epub ahead of print]. DOI: http://dx.doi.org/10.1093/eurheartj/ehu523
11. Burke A, Creighton W, Mont E, Li L, Hogan S, Kutys R, Fowler D, Virmani R. 2005. Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks. Circulation 112:798-802.
12. Corrado D, Basso C, Rizzoli G, Schiavon M, Thiene G. 2003. Does sports activity enhance the risk of sudden death in adolescents and young adults? J Am Coll Cardiol 42:1959-1963.
13. Corrado D, Basso C, Schiavon M, Pelliccia A, Thiene G. 2008. Pre-participation screening of young competitive athletes for prevention of sudden cardiac death. J Am Coll Cardiol 52:1981-1989.
14. De Bortoli M, Beffagna G, Bauce B, Lorenzon A, Smaniotto G, Rigato I, Calore M, Li Mura IE, Basso C, Thiene G, Lanfranchi G, Danieli GA, et al. 2010. The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. Eur J Hum Genet 18:776-782.
15. Den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
16. Den Haan AD, Tan BY, Zikusoka MN, Lladó LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, et al. 2009. Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet 2:428-435.
17. Fokkema IF, den Dunnen JT, Taschner PE. 2005. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 26:63-68.
18. Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Dubourg O, Delacretaz E, Cosnay P, Scanu P, Extramiana F, et al. 2010. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace 12:861-868.
19. Gandjbakhch E, Charron P, Fressart V, Lorin de la Grandmaison G, Simon F, Gary F, Vite A, Hainque B, Hidden-Lucet F, Komajda M, Villard E. 2011. Plakophilin 2A is the dominant isoform in human heart tissue: consequences for the genetic screening of arrhythmogenic right ventricular cardiomyopathy. Heart 97:844-849.
20. Garcia-Gras E, Lombardi R, Giocondo MJ, Willerson JT, Schneider MD, Khoury DS, Marian AJ. 2006. Suppression of canonical Wnt/β-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 116:2012-2021.
21. Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, et al. 2004. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36:1162-1164.
22. Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, Pescucci C, Pezzoli L, Sana ME, Basso C, Marziliano N, Merlini PA, et al. 2014. Novel alpha-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. Circ Cardiovasc Genet 7:741-750.
23. Grantham R. 1974. Amino acid difference formula to help explain protein evolution. Science 185:862-864.
24. Groeneweg JA, van der Zwaag PA, Jongbloed JD, Cox MG, Vreeker A, de Boer RA, van der Heijden JF, van Veen TA, McKenna WJ, van Tintelen JP, Dooijes D, Hauer RN. 2013. Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype? Heart Rhythm 10:548-559.
25. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, et al. 2012. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 366:619-628.
26. Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, Cox MG, Bhuiyan Z, Bikker H, Wiesfeld AC, Hauer RN, van Tintelen JP, et al. 2011. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol 57:2317-2327.
27. Liu X, Jian X, Boerwinkle E. 2011. dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat 32:894-899.
28. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, et al. 2010. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 121:1533-1541.
29. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F. 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 71:215-218.
30. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ. 2000. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119-2124.
31. Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, et al. 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 82:809-821.
32. Ng PC, Henikoff S. 2003. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812-3814.
33. Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM, Kelsell DP. 2006. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol 126:1651-1654.
34. Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ. 2005. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 112:636-642.
35. Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, et al. 2006. Mutations in desmoglein- gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 113:1171-1179.
36. Quarta G, Syrris P, Ashworth M, Jenkins S, Zuborne Alapi K, Morgan J, Muir A, Pantazis A, McKenna WJ, Elliott PM. 2012. Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 33:1128-1136.
37. Ramensky V, Bork P, Sunyaev S. 2002. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30:3894-3900.
38. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA. 2002. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 71:1200-1206.
39. Rasmussen TB, Nissen PH, Palmfeldt J, Gehmlich K, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, et al. 2014. Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis. Circ Cardiovasc Genet 7:230-240.
40. Rigato I, Bauce B, Rampazzo A, Zorzi A, Pilichou K, Mazzotti E, Migliore F, Marra MP, Lorenzon A, De Bortoli M, Calore M, Nava A, et al. 2013. Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. Circ Cardiovasc Genet 6:533-542.
41. Schaefer E, Helms P, Marcellin L, Desprez P, Billaud P, Chanavat V, Rousson R, Millat G. 2014. Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene. Eur J Med Genet 57:129-132.
42. Sen-Chowdhry S, Syrris P, McKenna WJ. 2005. Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies. Eur Heart J 26:1582-1584.
43. Sen-Chowdhry S, Syrris P, Prasad SK, Hughes SE, Merrifield R, Ward D, Pennell DJ, McKenna WJ. 2008. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol 52:2175-2187.
44. Splawski I, Timothy KW, Tateyama M, Clancy CE, Malhotra A, Beggs AH, Cappuccio FP, Sagnella GA, Kass RS, Keating MT. 2002. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 297:1333-1336.
45. Syrris P, Ward D, Asimaki A, Sen-Chowdhry S, Ebrahim HY, Evans A, Hitomi N, Norman M, Pantazis A, Shaw AL, Elliott PM, McKenna WJ. 2006. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation 113:356-364.
46. Syrris P, Ward D, Evans A, Asimaki A, Gandjbackhch E, Sen-Chowdhry S, McKenna WJ. 2006. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Genet 79:978-984.
47. Taylor M, Graw S, Sinagra G, Barnes C, Slavov D, Brun F, Pinamonti B, Salcedo EE, Sauer W, Pyxaras S, Anderson B, Simon B, et al. 2011. Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation 124:876-885.
48. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. 1998. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 318:129-133.
49. Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, et al. 2001. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 10:189-194.
50. van der Zwaag PA, Jongbloed JD, van den Berg MP, van der Smagt JJ, Jongbloed R, Bikker H, Hofstra RM, van Tintelen JP. 2009. A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Hum Mutat 30:1278-1283.
51. van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, et al. 2012. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail 14:1199-1207.
52. van Hengel J, Calore M, Bauce B, Dazzo E, Mazzotti E, De Bortoli M, Lorenzon A, Li Mura IE, Beffagna G, Rigato I, Vleeschouwers M, Tyberghein K, et al. 2013. Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 34:201-210.
53. van Tintelen JP, Hofstra RM, Wiesfeld AC, van den Berg MP, Hauer RN, Jongbloed JD. 2007. Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon? Curr Opin Cardiol 22:185-192.
54. van Tintelen JP, van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD, van den Wijngaard A, Kuks JB, Spaendonck-Zwarts KY, Notermans N, Boven L, van den Heuvel F, et al. 2009. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. Heart Rhythm 6:1574-1583.
55. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. 2008. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzersequence variation nomenclature checker. Hum Mutat 29:6-13.
56. Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, Scherer SE, Saffitz J, Kravitz J, Zareba W, Danieli GA, Lorenzon A, et al. 2010. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 55:587-597.