A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation

American Heart Journal

Volumn 144, Issue 6, 2002, Pages 1081-1086

  Hershberger, Ray E ^a,b   Hanson, Emily L ^a   Jakobs, Petra M ^a   Keegan, Hugh ^a   Coates, Kelly ^a   Bousman, Sylvia ^b   Litt, Michael ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C;

ADULT; ARTICLE; ARTIFICIAL HEART PACEMAKER; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE MUTATION; HEART ARRHYTHMIA; HEART DILATATION; HEART FAILURE; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; IMPLANTATION; MALE; MISSENSE MUTATION; PACEMAKER; PHENOTYPE; PRIORITY JOURNAL;

EID: 0036911038     PISSN: 00028703     EISSN: None     Source Type: Journal    
DOI: 10.1067/mhj.2002.126737     Document Type: Article

References (32)

1. Michels VV, Moll PP, Miller FA, et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. New Engl J Med 1992;326:77-82.
2. Baig MK, Goldman JH, Caforio AP, et al. Familial dilated cardiomyopathy: Cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 1998;31:195-201.
3. Grünig E, Tasman JA, Kücherer H, et al. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 1998; 31:186-94.
4. Olson TM, Michels VV, Thibodeau SN, et al. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998;280:750-2.
5. Li D, Tapscoft T, Gonzalez O, et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999;100:461-4.
6. Tsubata S, Bowles KR, Vatta M, et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 2000;106:655-62.
7. Kamisago M, Sharma SD, DePalma SR, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000;343:1688-96.
8. Li D, Czernuszewicz GZ, Gonzalez O, et al. Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. Circulation 2001;104:2188-93.
9. Hanson E, Jakobs P, Keegan H, et al. Cardiac troponin T lysine-210 deletion in a family with dilated cardiomyopathy. J Card Fail 2002;8:28-32.
10. Olson TM, Kishimoto NY, Whitby FG, et al. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol 2001;33:723-32.
11. Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002;30:201-4.
12. Fatkin D, MacRae C, Sasaki T, et al. Missense 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.
13. Brodsky G, Muntoni F, Miocic S, et al. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 2000;101:473-6.
14. Becane HM, Bonne G, Varnous S, et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 2000; 23:1661-6.
15. Jakobs PM, Hanson E, Crispell KA, et al. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. J Card Fail 2001;7:249-56.
16. Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-8.
17. Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery- Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000;48:170-80.
18. Felice KJ, Schwartz RC, Brown CA, et al. Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. Neurology 2000;55:275-80.
19. Raffaele Di Barletta M, Ricci E, Galluzzi G, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000;66:1407-12.
20. Muchir A, Bonne G, van der Kooi AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000;9:1453-9.
21. Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 2000;9:109-12.
22. Hegele RA, Anderson CM, Wang J, et al. Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. Genome Res 2000;10:652-8.
23. Speckman RA, Garg A, Du F, et al. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet 2000;66:1192-8.
24. Shackleton S, Lloyd DJ, Jackson SN, et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 2000;24: 153-6.
25. Vigouroux C, Magre J, Vantyghem MC, et al. Lamin A/C gene: Sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. Diabetes 2000;49:1958-62.
26. Wilson KL. The nuclear envelope, muscular dystrophy and gene expression. Trends Cell Biol 2000;10:125-9.
27. Genschel J, Schmidt HH. Mutations in the LMNA gene encoding lamin A/C. Hum Mutat 2000;16:451-9.
28. Brown CA, Lanning RW, McKinney KQ, et al. Novel and recurrent mutations in lamin A/C in patients with Emery- Dreifuss muscular dystrophy. Am J Med Genet 2001;102:359-67.
29. Crispell K, Wray A, Ni H, et al. Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: Preliminary recommendations for clinical practice. J Am Coll Cardiol 1999;34:837-47.
30. Hershberger RE, Ni H, Crispell KA. Familial dilated cardiomyopathy: Echocardiographic diagnostic criteria for classification of family members as affected. J Card Fail 1999;51:203-12.
31. Hanson E, Hershberger RE. Genetic counseling and screening issues in familial dilated cardiomyopathy. J Genet Counseling 2001; 10:397-415.
32. Crispell KA, Hanson E, Coates K, et al. Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. J Am Coll Cardiol 2002;39:1503-7.