The locus of a novel gene responsible for arrhythmogenic right- ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14

American Journal of Human Genetics

Volumn 66, Issue 1, 2000, Pages 148-156

  Li, Duanxiang ^a   Ahmad, Ferhaan ^a,b   Gardner, Martin J ^d   Weilbaecher, Donald ^c   Hill, Rita ^a   Karibe, Akihiko ^a   Gonzalez, Oscar ^a   Tapscott, Terry ^a   Sharratt, Geoffrey P ^e   Bachinski, Linda L ^a   Roberts, Robert ^a  

^a Section of Cardiology   (United States)

^b Grad Prog in Cardiovasc Sciences   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d QUEEN ELIZABETH II HEALTH SCIENCES CENTRE   (Canada)

^e Izaak Walton Killam Hospital for Children   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 10P; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC RECOMBINATION; GENOTYPE; HAPLOTYPE; HEART VENTRICLE TACHYCARDIA; HUMAN; HUMAN TISSUE; MALE; ONSET AGE; PENETRANCE; PRIORITY JOURNAL;

EID: 0033910196     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302713     Document Type: Article

References (32)

1. Ahmad F, Li D, Karibe A, Gonzalez O, Tapscott T, Hill R, Weilbaecher D, et al (1998) Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation 98:2791-2795
2. Basso C, Thiene G, Corrado D, Angelina A, Nava A, Valente M (1996) Arrhythmogenic right ventricular cardiomyopathy: dysplasia, dystrophy or myocarditis. Circulation 94: 983-991
3. Bharati S, Ciraulo DA, Bilitch M, Rosen KM, Lev M (1978) Inexcitable right ventricle and bilateral bundle branch block in Uhl's disease. Circulation 57:636-644
4. Capetanaki Y, Smith S, Heath JP (1989) Overexpression of the vimentin gene in transgenic mice inhibits normal lens cell differentiation. J Cell Biol 109:1653-1664
5. Corrado D, Thiene G, Nava A, Rossi L, Pennelli N (1990) Sudden death in young competitive athletes: clinicopathological correlation in 22 cases. Am J Med 89:588-596
6. Dungan WT, Garson A Jr, Gillette PC (1981) Arrhythmogenic right ventricular dysplasia: a cause of ventricular tachycardia in children with apparently normal hearts. Am Heart J 102: 745-750
7. Durand JB, Bachinski LL, Beiling L, Czernuszewicz GZ, Abchee AB, Yu QT, Tapscott T, et al (1995) Localization of a gene responsible for familial idiopathic dilated cardiomyopathy to chromosome 1q32. Circulation 92:3387-3389
8. Fontaine G, Fontaliran F, Frank R (1998) Arrhythmogenic right ventricular cardiomyopathies: clinical forms and main differential diagnoses. Circulation 97:1532-1535
9. Fontaine G, Fontaliran F, Hebert JL, Chemla D, Zenati O, Lecarpentier Y, Frank R (1999) Arrhythmogenic right ventricular dysplasia. Annu Rev Med 50:17-35
10. Frances R, Rodriguez-Benitez AM, Cohen DR (1997) Arrhythmogenic right ventricular dysplasia and anterior polar cataract. Am J Med Genet 73:125-126
11. Franke WW, Hergt M, Grund C (1987) Rearrangement of the vimentin cytoskeleton during adipose conversion: formation of an intermediate filament cage around lipid globules. Cell 49:131-141
12. Li D, Tapscott T, Gonzalez O, Burch PE, Quinones M, Zoghbi WA, Hill R, et al (1999) Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 100:461-464
13. Mallat Z, Tedgui A, Fontaliran F, Frank R, Durigon M, Fontaine G (1996) Evidence of apoptosis in arrhythmogenic right ventricular dysplasia. N Engl J Med 335:1190-1196
14. Marcus FI ( 1997) Is arrhythmogenic right ventricuar dysplasia, Uhl's anomaly, and right ventricular outflow tract tachycardia a spectrum of the same disease. Cardiol Rev 5:25-29
15. Marcus FI, Fontaine GH, Guiraudon G (1982) Right ventricular dysplasia: a report of 24 adult cases. Circulation 65: 384-398
16. Marian AJ, Roberts R (1995) Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation 92: 1336-1347
17. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F (1994) Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J 71(3) :215-218
18. Nava A, Scognamiglio R, Thiene G, Canciani B, Daliento L, Buja G, Stritoni P, et al (1987) A polymorphic form of familial arrhythmogenic right ventricular dysplasia. Am J Cardiol 59:1405-1409
19. Olson TM, Michels VV, Thibodeau SN, Tai Y-S, Keating MT (1998) Actin mutations in dilated cardiomypathy, a heritable form of heart failure. Science 280:750-752
20. Ott J (1991) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore
21. Pawal B, de Chadarevian JP, Wolk JH, Donner RM, Vogel RL, Braverman P (1994) Sudden death in childhood due to right ventricular dysplasia: report of two cases. Pediatr Pathol 14: 987-995
22. Rampazzo A, Nava A, Buja G, Daliento L, Fasoli G, Scognamiglio R, Corrado D, et al (1994) The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 3:959-962
23. Rampazzo A, Nava A, Erne P, Eberhard M, Vian E, Slomp P, Tiso N, et al (1995) A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum Mol Genet 4:2151-2154
24. Rampazzo A, Nava A, Miorin M, Fonderico P, Pope B, Tiso N, Livolsi G, et al (1997) ARVD4, a new lcous for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. Genomics 45:259-263
25. Severini GM, Krajinovic M, Pinamonti B, Sinagra G, Fioretti P, Brunazzi MC, Falaschi A, et al (1996) A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. Genomics 31:193-200
26. Shen W-K, Edwards WD, Hammill SC, Bailey KR, Ballard DJ, Gersh BJ (1995) Sudden unexpected non-traumatic death in 54 young adults: a 30 year population-based study. Am J Cardiol 76:148-152
27. Shen WK, Edwards WD, Hammill SC, Gersh BJ (1994) Right ventricular dysplasia: a need for precise pathological definition for interpretation of sudden death. J Am Coll Cardiol 23:34
28. Srivastava D, Thomas T, Lin Q, Brown D, Olson EN (1997) Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND. Nat Genet 16:154-161
29. Thiene G, Basso C, Danieli G, Rampazzo A, Corrado D, Nava A (1997) Arrhythmogenic right ventricular cardiomyopathy. Trends Cardiovasc Med 7:84-90
30. Valente M, Calabrese F, Thiene G, Angelina A, Basso C, Nava A, Rossi L (1998) In vivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy. Am J Pathol 152: 479-484
31. Vecht RJ, Carmichael DJ, Gopal R, Philip G (1979) Uhl's anomaly. Br Heart J 41:676-682
32. WHO/ISFC Task Force (1996) Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 93:841-842