Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population

Indian Journal of Human Genetics

Volumn 17, Issue 2, 2011, Pages 70-76

  Pamuru, Pranathi ^a   Maithili, D ^a   Mohiuddin, Khalid ^b   Calambur, Narasimhan ^b   Nallari, Pratibha ^a  

^a OSMANIA UNIVERSITY   (India)

^b CARE HOSPITAL   (India)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; fibro fatty tissue; palpitations; sudden death

Indexed keywords

DESMOCOLLIN; DESMOGLEIN 2; PEPTIDES AND PROTEINS; PLAKOGLOBIN; PLAKOHILIN 2 PROTEIN; RYANODINE RECEPTOR 2; TRANSFORMING GROWTH FACTOR BETA3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; EXON; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; INDIA; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PROTEIN PROTEIN INTERACTION;

EID: 80155149588     PISSN: 09716866     EISSN: 1998362X     Source Type: Journal    
DOI: 10.4103/0971-6866.86182     Document Type: Article

References (15)

1. Garcia-Gras E, Lombardi R, Giocondo MJ, Willerson JT, Schneider MD, Khoury DS, et al. Suppression of canonical Wnt/bcatenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 2006;116:2012-21. (Pubitemid 44033325)
2. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom- Lundqvist C, Fntaine G, et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J 1994;71:215-8. (Pubitemid 24113523)
3. Lahiri D, Nurnberg J. A rapid non-enzymatic method for the preparation of high molecular weight DNA from blood for RFLP studies. Nucleic Acids Res 1991;19:5449-56.
4. Gerull B, Heuser A, Wichter T, Paul M, Basson Ct, McDermott DA, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004;36:1162-4 (Pubitemid 41288964)
5. Erratum in: Nat Genet 2005;37:106.
6. Whittock NV, Eady RA, McGrath JA. Genomic organization and amplifi cation of the human plakoglobin gene (JUP). Exp Dermatol 2000;9:323-6.
7. Syrris P, Ward D, Asimaki A, Sen-Chowdhry S, Ebrahim HY, Evans A, et al. Clinical expression of Plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation 2006;113:356-64. (Pubitemid 43803196)
8. Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, et al. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Am J Hum Genet 2006;79:136-42. (Pubitemid 43927384)
9. Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, et al. 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 2008;82:809-21.
10. Tateishi H, Yano M, Mochizuki M, Suetomi T, Ono M, Xu X, et al. Defective domain-domain interactions within the ryanodine receptor as a critical cause of diastolic Ca2+ leak in failing hearts. Cardiovasc Res 2009;81:536-45.
11. Tintelen PJ, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2006;113:1650-8.
12. Chen X, Bonne S, Hatzfeld M, Roy F, Green KJ. Protein Binding and Functional Characterization of Plakophilin 2- Evidence for its diverse roles in desmosomes and β-catenin signaling. J Biol Chem 2002;277:10512-22. (Pubitemid 34968174)
13. Norman MW, McKenna WJ. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: Perspectives on diseases. Z Kardiol 1999;88:550-4. (Pubitemid 29426274)
14. Kannankeril PJ, Bhuiyan ZA, Darbar D, Mannens MM, Wilde AA, Roden DM. Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: Wide spectrum of disease in mutation carriers within a family. Heart Rhythm 2006;3:939-44. (Pubitemid 44103512)
15. Wlodarska EK, Konka M, Zaleska T, Ploski R, Cedro K, Pucilowska B, et al. Arrhythmogenic right ventricular cardiomyopathy in two pairs of monozygotic twins. Int J Cardiol 2005;105:126-33. (Pubitemid 41512477)