Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair

Cardiology

Volumn 113, Issue 1, 2009, Pages 28-34

  Simpson, M A ^a   Mansour, S ^a   Ahnood, D ^a   Kalidas, K ^a   Patton, M A ^a   McKenna, W J ^c   Behr, E R ^b   Crosby, A H ^a,b  

^a Medical Genetics   (United Kingdom)

^b ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; Desmocollin 2; Desmosome; Palmoplantar keratoderma

Indexed keywords

DESMOCOLLIN; DESMOCOLLIN 2; DESMOPLAKIN; PLAKOGLOBIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 18; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DISEASE ASSOCIATION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE CLUSTER; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART LEFT VENTRICLE; HEART RIGHT VENTRICLE DYSPLASIA; HOMOZYGOSITY; HOMOZYGOUS MUTATION; HUMAN; HUMAN CELL; MALE; PALMOPLANTAR KERATODERMA; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; SKIN APPENDAGE DISEASE; STOP CODON; WOOLLY HAIR;

ADULT; AGED; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DESMOCOLLINS; DESMOSOMES; FEMALE; GENES, RECESSIVE; HAIR; HOMOZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MIDDLE AGED; PEDIGREE;

EID: 54849404191     PISSN: 00086312     EISSN: None     Source Type: Journal    
DOI: 10.1159/000165696     Document Type: Article

References (27)

1. Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, Grosgogeat Y: Right ventricular dysplasia: a report of 24 adult cases. Circulation 1982; 65: 384-398.
2. Fontaine G, Fontaliran F, Hebert JL, Chemla D, Zenati O, Lecarpentier Y, Frank R: Arrhythmogenic right ventricular dysplasia. Annu Rev Med 1999; 50: 17-35.
3. Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ: Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 2005; 112: 636-642.
4. 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.
5. Sen-Chowdhry S, Syrris P, McKenna WJ: Genetics of right ventricular cardiomyopathy. J Cardiovasc Electrophysiol 2005; 16: 927-935.
6. Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A: 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: 189-194.
7. Bauce B, Rampazzo A, Basso C, Bagattin A, Daliento L, Tiso N, Turrini P, Thiene G, Danieli GA, Nava A: Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol 2002; 40: 341-349.
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: Regulatory mutations in transforming growth factor- β 3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 2005; 65: 366-373.
9. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ: Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355: 2119-2124.
10. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA: Mutation in human desmoplakin domainbinding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002; 71: 1200-1206.
11. Bauce B, Basso C, Rampazzo A, Beffagna G, Daliento L, Frigo G, Malacrida S, Settimo L, Danieli G, Thiene G, Nava A: Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 2005; 26: 1666-1675.
12. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP: Recessive mutation in desmoplakin disrupts desmoplakin- intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9: 2761-2766.
13. Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T: A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 2003; 42: 319-327.
14. Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L: Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004; 36: 1162-1164.
15. Syrris P, Ward D, Asimaki A, Sen-Chowdhry S, Ebrahim HY, Evans A, Hitomi N, Norman M, Pantazis A, Shaw AL, Elliott PM, Mc- Kenna WJ: Clinical expression of plakophilin- 2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation 2006; 113: 356-364.
16. Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, Prakasa K, Towbin JA, Marcus FI, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP: Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation 2006; 113: 1641-1649.
17. van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN: Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2006; 113: 1650-1658.
18. Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A: Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006; 113: 1171-1179.
19. Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP: DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet 2006; 79: 136-142.
20. Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ: Arrhythmogenic right ventricular dysplasia/ cardiomyopathy associated with mutations in the desmosomal gene desmocollin- 2. Am J Hum Genet 2006; 79: 978-984. Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B: Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2006; 79: 1081-1088.
21. Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ: A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2007; 81: 964-973.
22. Huber O: Structure and function of desmosomal proteins and their role in development and disease. Cell Mol Life Sci 2003; 60: 1872-1890.
23. Nuber UA, Schafer S, Schmidt A, Koch PJ, Franke WW: The widespread human desmocollin Dsc2 and tissue-specific patterns of synthesis of various desmocollin subtypes. Eur J Cell Biol 1995; 66: 69-74.
24. Beffagna G, De Bortoli M, Nava A, Salamon M, Lorenzon A, Zaccolo M, Mancuso L, Sigalotti L, Bauce B, Occhi G, Basso C, Lanfranchi G, Towbin JA, Thiene G, Danieli GA, Rampazzo A: Missense mutations in desmocollin- 2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro. BMC Med Genet 2007; 8: 65.
25. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F: 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.
26. Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, Sachdev B, Rowland E, Elliott PM, McKenna WJ: Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardio myopathy/ dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002; 40: 1445-1450.
27. Garcia-Gras E, Lombardi R, Giocondo MJ, Willerson JT, Schneider MD, Khoury DS, Marian AJ: Suppression of canonical Wnt/ beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 2006; 116: 2012-2021.