Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

British Journal of Dermatology

Volumn 165, Issue 4, 2011, Pages 917-921

  Erken, H ^a   Yariz, K O ^b   Duman, D ^c   Kaya, C T ^a   Sayin, T ^a   Heper, A O ^b   Tekin, M ^a,b  

^a Departments of Cardiology   (Turkey)

^b ANKARA UNIVERSITY   (Turkey)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

JUP PROTEIN; PEPTIDES AND PROTEINS; PLAKOGLOBIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY WITH ALOPECIA AND PALMOPLANTAR KERATODERMA; CASE REPORT; CHROMOSOME 17; DESMOSOME; GENE MUTATION; GENETIC ANALYSIS; HEART VENTRICLE TACHYCARDIA; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALOPECIA; CARDIOMYOPATHIES; DESMOPLAKINS; HETEROZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MIDDLE AGED; MUTATION, MISSENSE;

EID: 80053575074     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10455.x     Document Type: Article

References (18)

1. Frank R, Fontaine G, Vedel J,. Electrocardiology of 4 cases of right ventricular dysplasia inducing arrhythmia. Arch Mal Coeur Vaiss 1978; 71: 963-72. (Pubitemid 9026766)
2. Bolling MC, Jonkman MF,. Skin and heart: une liaison dangereuse. Exp Dermatol 2009; 18: 658-68.
3. McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355: 2119-24. (Pubitemid 30364661)
4. Rampazzo A, Nava A, Malacrida S, 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. (Pubitemid 35305239)
5. Gerull B, Heuser A, Wichter T, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004; 36: 1162-4. (Pubitemid 41288964)
6. Awad MM, Dalal D, Cho E, et al. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet 2006; 79: 136-42. (Pubitemid 43927384)
7. Syrris P, Ward D, Evans A, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 2006; 79: 978-84. (Pubitemid 44763413)
8. Sirmaci A, Erbek S, Price J, et al. A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. Am J Hum Genet 2010; 86: 797-804.
9. Gumbiner BM,. Cell adhesion: the molecular basis of tissue architecture and morphogenesis. Cell 1996; 84: 345-57. (Pubitemid 26058560)
10. Garrod DR, Merritt AJ, Nie Z,. Desmosomal adhesion: structural basis, molecular mechanism and regulation. Mol Membr Biol 2002; 19: 81-94. (Pubitemid 34753312)
11. Bierkamp C, Mclaughlin KJ, Schwarz H, et al. Embryonic heart and skin defects in mice lacking plakoglobin. Dev Biol 1996; 180: 780-5. (Pubitemid 27037381)
12. Peifer M, McCrea PD, Green KJ, et al. The vertebrate adhesive junction proteins beta-catenin and plakoglobin and the Drosophila segment polarity gene armadillo form a multigene family with similar properties. J Cell Biol 1992; 118: 681-91.
13. Kowalczyk AP, Bornslaeger EA, Borgwardt JE, et al. The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes. J Cell Biol 1997; 139: 773-84. (Pubitemid 27485841)
14. Thomason HA, Scothern A, McHarg S, Garrod DR,. Desmosomes: adhesive strength and signalling in health and disease. Biochem J 2010; 429: 419-33.
15. Ozawa M, Terada H, Pedraza C,. The fourth armadillo repeat of plakoglobin (gamma-catenin) is required for its high affinity binding to the cytoplasmic domains of E-cadherin and desmosomal cadherin Dsg2, and the tumor suppressor APC protein. J Biochem 1995; 118: 1077-82.
16. Asimaki A, Syrris P, Wichter T, et al. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2007; 81: 964-73. (Pubitemid 47580249)
17. Cabral RM, Liu L, Hogan C, et al. Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol 2010; 130: 1543-50.
18. Pigors M, Kiritsi D, Krümpelmann S, et al. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet 2011; 20: 1811-19.