Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)

Lancet

Volumn 355, Issue 9221, 2000, Pages 2119-2124

  McKoy, Godfrina ^a   Protonotarios, Nikos ^b,c   Crosby, Andrew ^a   Tsatsopoulou, Adalena ^b   Anastasakis, Aris ^c   Coonar, Aman ^a   Norman, Mark ^a   Baboonian, Christina ^a   Jeffery, Steve ^a   McKenna, William J ^a  

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

^b Yannis Protonotarios Medical Centre   (Greece)

^c UNIVERSITY OF ATHENS   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

PLAKOGLOBIN; RESTRICTION ENDONUCLEASE; RNA;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARDIOMYOPATHY; CELL ADHESION; CELL DEATH; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GREECE; HAIR DISEASE; HEART RIGHT VENTRICLE DYSPLASIA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; KERATOSIS PALMOPLANTARIS; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TIGHT JUNCTION;

EID: 0034679297     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(00)02379-5     Document Type: Article

References (31)

1. McKenna WJ, Thiene G, Nava A, et al. Diagnosis of arrhythmogenie 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: 215-18.
2. Rampazzo A, Nava A, Danieli GA, et al. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 1994; 3: 959-62.
3. Rampazzo A, Nava A, Erne P, et al. A new locus for arrhythmo genic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum Mol Genet 1995; 4: 2151-54.
4. Severini GM, Krajinovic M, Pinamonti B, et al. A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. Genomics 1996; 31: 193-200.
5. Rampazzo A, Nava A, Miorin M, et al. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. Genomics 1997; 45: 259-63.
6. Ahmad F, Li D, Karibe A, et al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation 1998; 98: 2791-95.
7. Protonotarios N, et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 1986; 56: 321-26.
8. Fontaine G, Fontaliran F, Frank R. Arrhythmogenic ventricular cardiomyopathies: clinical forms and main differential diagnoses. Circulation 1998; 97: 1532-35.
9. Protonotarios N, Tsatsopoulou A. The Naxos disease. In: Nava A, Rossi L, Thiene G, eds. Arrhythmogenic right ventricular dysplasia/cardiomyopathy. Amsterdam: Elsevier Science BV, 1997: 454-62.
10. Coonar AS, Protonotarios N, Tsatsopoulou A, et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation 1998; 97: 2049-58.
11. Aberle H, Bierkamp C, Torchard D, et al. The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers. Proc Natl Acad Sci USA 1995;92:6384-88.
12. Hatzfeld M. The armadillo family of structural proteins. Int Rev Cytol 1999; 186: 179-224.
13. Ruiz P, Brinkmann V, Ledermann B, et al. Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol 1996; 135: 215-25.
14. Bierkamp C, Mclaughlin KJ, Schwarz H, Huber O, Kemler R. Embryonic heart and skin defects in mice lacking plakoglobin. Dev Biol 1996; 180: 780-85.
15. Laemmli UK. Cleavage of structural proteins during assembly of the head of bacteriophage T4. Nature 1970; 227: 680-85.
16. Hertig CM, Butz S, Koch S, et al. N-cadherin in adult rat cardiomyocytes in culture II. Spatio-temporal appearance of proteins involved in cell-cell contact and communication. Formation of two distinct N-cadherin/catenin complexes. J Cell Sci 1996; 109: 11-20.
17. Haftek M, Hansen MU, Kaiser HW, Kreysel HW, Schmitt D. Interkeratinocyte adherens junctions: immunocytochemical visualisation of cell-cell junctional structures, distinct from desmosomes, in human epidermis. J Invest Dermatol 1996; 106: 498-504.
18. North AJ, Bardsley WG, Hyam J, et al. Molecular map of the desmosomal plaque. J Cell Sci 1999; 112: 4325-36.
19. Palka HL, Green KJ. Roles of plakoglobin end domains in desmosome assembly. J Cell Sci 1997; 110: 2359-71.
20. Troyanovsky RB, Chitaev NA, Troyanovsky SM. Cadherin binding sites of plakoglobin: localisation, specificity and role in targeting to adhering junctions. J Cell Sci 1996; 109: 3069-78.
21. Jongbloed RJ, Wilde AA, Geelen JL, et al. Novel KCNQ1 and HERG mis-sense mutations in Dutch long-QT families. Hum Mutat 1999; 13: 301-10.
22. Schnittler HJ, Puschel B, Drenckhahn D. Role of cadherins and plakoglobin in interendothelial adhesion under resting conditions and shear stress. Am J Physiol 1997; 273: H2396-405.
23. Kapprell HP, Cowin P, Franke WW. Biochemical charcterisation of the soluble form of junctional plaque protein, plakoglobin, from different cell types. Eur J Biochem 1987; 166: 505-17.
24. Zimmer HG. Some aspects of cardiac heterogeneity. Basic Res Cardiol 1994; 89: 101-17.
25. Guiraudon CM. Histological diagnosis of right ventricular dysplasia: a role for electron microscopy? Eur Heart J 1989; 10 (suppl): D95-96.
26. Roncali L, Nico B, Locuratolo N, Bertossi M, Chiddo A. Right ventricular dysplasia: an ultrastructural study. Eur Heart J 1989; 10 (suppl): D97-99.
27. Koch PJ, Mahoney MG, Cotsarelis G, et al. Desmoglein 3 anchors telogen hair in the follicle. J Cell Sci 1998; 111: 2529-37.
28. McGrath JA, McMillan JR, Shemanko CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17: 240-44.
29. Rao BH, Reddy IS, Chandra KS. Familial occurrence of a rare combination of dilated cardiomyopathy palmoplantar and curly hair. Indian Heart J 1996; 48: 161-62.
30. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Dermatol 1998; 39: 418-21.
31. Fatkin D, MacRae C, Sasaki T, et al. Mis-sense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999; 341: 1715-24.