Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: Do lamin A/C mutations portend a high risk of sudden death?

Journal of Molecular Medicine

Volumn 83, Issue 1, 2005, Pages 79-83

  Van Berlo, Jop H ^a,h   De Voogt, Willem G ^b   Van Der Kooi, Anneke J ^c   Van Tintelen, J Peter ^d   Bonne, Gisèle ^e   Yaou, Rabah Ben ^e   Duboc, Denis ^f   Rossenbacker, Tom ^g   Heidbüchel, Hein ^g   De Visser, Marianne ^c   Crijns, Harry J G M ^a   Pinto, Yigal M ^a,i,j,k,l  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ONZE LIEVE VROUWE GASTHUIS   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e INSERM   (France)

^f Service de Cardiologie   (France)

^g UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^h MAASTRICHT UNIVERSITY   (Netherlands)

ⁱ UNIVERSITY OF GRONINGEN   (Netherlands)

^j HARVARD MEDICAL SCHOOL   (United States)

^k FREIE UNIVERSITÄT BERLIN   (Germany)

^l MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

more..

Author keywords

Cardiomyopathy; Genetics; Skeletal muscles; Sudden death

Indexed keywords

LAMIN A; LAMIN B;

ADULT; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; ELECTROCARDIOGRAM; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HEART FAILURE; HETEROZYGOTE; HUMAN; LMNA GENE; MAJOR CLINICAL STUDY; MALE; MUSCULAR DYSTROPHY; MUTAGENESIS; MUTATIONAL ANALYSIS; P WAVE; PHENOTYPE; QRS COMPLEX; REVIEW; RISK ASSESSMENT; SUDDEN DEATH;

ARRHYTHMIA; DEATH, SUDDEN; GENETIC PREDISPOSITION TO DISEASE; HEART FAILURE, CONGESTIVE; HETEROZYGOTE; HUMANS; LAMIN TYPE A; LAMINS; MUTATION; PACEMAKER, ARTIFICIAL;

EID: 19944431159     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-004-0589-1     Document Type: Review

References (30)

1. Arbustini E, Pilotto A, Repetto A et al (2002) Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 39:981-990
2. Seidman JG, Seidman C (2001) The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 104:557-567
3. McKeon FD, Kirschner MW, Caput D (1986) Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature 319:463-468
4. Fisher DZ, Chaudhary N, Blobel G (1986) cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. Proc Natl Acad Sci USA 83:6450-6454
5. Lin F, Worman HJ (1993) Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 268:16321-16326
6. Gerace L, Blobel G (1980) The nuclear envelope lamina is reversibly depolymerized during mitosis. Cell 19:277-287
7. Bonne G, Di Barletta MR, Varnous S et al (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21:285-288
8. Muchir A, Bonne G, van der Kooi AJ et al (2000) 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 9:1453-1459
9. Fatkin D, MacRae C, Sasaki T et al (1999) 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 341:1715-1724
10. Brodsky GL, Muntoni F, Miocic S et al (2000) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 101:473-476
11. Schmidt HH, Lochs H (2001) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 103:E20
12. Genschel J, Baier P, Kuepferling S et al (2000) A new frame-shift mutation at codon 466 (1397delA) within the LMNA gene. Hum Mutat 16:278
13. Becane HM, Bonne G, Varnous S et al (2000) High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 23:1661-1666
14. Genschel J, Bochow B, Kuepferling S et al (2001) A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy. Hum Mutat 17:154
15. Jakobs PM, Hanson EL, Crispell KA et al (2001) Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. J Card Fail 7:249-256
16. Bonne G, Mercuri E, Muchir A et al (2000) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 48:170-180
17. Brown CA, Lanning RW, McKinney KQ et al (2001) Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet 102:359-367
18. Colomer J, Iturriaga C, Bonne G et al (2002) Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis. Neuromuscul Disord 12:19-25
19. Raffaele Di Barletta M, Ricci E, Galluzzi G et al (2000) Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66:1407-1412
20. Voit T, Krogmann O, Lenard HG et al (1988) Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics 19:62-71
21. Felice KJ, Schwartz RC, Brown CA et al (2000) Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. Neurology 55:275-280
22. Sewry CA, Brown SC, Mercuri E et al (2001) Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 27:281-290
23. Mercuri E, Manzur AY, Jungbluth H et al (2000) Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2). Neurology 54:1704-1705
24. Kooi AJ van der, Ledderhof TM, de Voogt WG et al (1996) A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 39:636-642
25. Kitaguchi T, Matsubara S, Sato M et al (2001) A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromuscul Disord 11:542-546
26. Kooi AJ van der, van Meegen M, Ledderhof TM et al (1997) Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet 60:891-895
27. Vreede de-Swagemakers JJ, Gorgels AP, Dubois-Arbouw WI et al (1997) Out-of-hospital cardiac arrest in the 1990's: a population-based study in the Maastricht area on incidence, characteristics and survival. J Am Coll Cardiol 30:1500-505
28. Taylor MR, Fain PR, Sinagra G et al (2003) Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 41:771-780
29. Forissier JF, Bonne G, Bouchier C et al (2003) Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. Eur J Heart Fail 5:821-825
30. Vytopil M, Benedetti S, Ricci E et al (2003) Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet 40:e132