Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

New England Journal of Medicine

Volumn 341, Issue 23, 1999, Pages 1715-1724

  Fatkin, Diane ^a   Macrae, Calum ^b   Sasaki, Takeshi ^b   Wolff, Matthew R ^c   Porcu, Maurizio ^d   Frenneaux, Michael ^e   Atherton, John ^f   Vidaillet Jr , Humberto J ^g   Spudich, Serena ^b   De Girolami, Umberto ^a   Seidman, J G ^b   Seidman, Christine E ^a,b,h   Muntoni, Francesco ⁱ   Müehle, Gerry ^f   Johnson, Wendy ^a   McDonough, Barbara ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^d BROTZU HOSPITAL   (Italy)

^e CARDIFF UNIVERSITY   (United Kingdom)

^f ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^g MARSHFIELD CLINIC   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; LAMIN A; LAMIN C;

ADULT; ARTICLE; ATRIOVENTRICULAR BLOCK; AUTOSOMAL DOMINANT DISORDER; BRADYCARDIA; DNA SEQUENCE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FAMILIAL DISEASE; FEMALE; GENOTYPE; HEART ATRIUM ARRHYTHMIA; HEART DILATATION; HEART FAILURE; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SUDDEN DEATH;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARRHYTHMIA; CARDIOMYOPATHY, DILATED; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENES, DOMINANT; GENOTYPE; HUMANS; LAMIN TYPE A; LAMINS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PROTEIN ISOFORMS; SEQUENCE ANALYSIS, DNA;

EID: 0033518282     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199912023412302     Document Type: Article

References (40)

1. Cohn JN, Bristow MR, Chien KR, et al. Report of the National Heart, Lung, and Blood Institute Special Emphasis Panel on Heart Failure Research. Circulation 1997;95:766-70.
2. Dec GW, Fuster V. Idiopathic dilated cardiomyopathy. N Engl J Med 1994;331:1564-75.
3. Kasper EK, Agema WRP, Hutchins GM, Deckers JW, Hare JM, Baughman KL. The causes of dilated cardiomyopathy: a clinicopathologic review of 673 consecutive patients. J Am Coll Cardiol 1994;23:586-90.
4. Michels VV, Moll PP, Miller FA, et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 1992;326:77-82.
5. Keeling PJ, Gang Y, Smith G, et al. Familial dilated cardiomyopathy in the United Kingdom. Br Heart J 1995;73:417-21.
6. Grunig E, Tasman JA, Kucherer H, Franz W, Kubler W, Katus HA. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 1998;31:186-94.
7. Krajinovic M, Pinamonti B, Sinagra G, et al. Linkage of familial dilated cardiomyopathy to chromosome 9. Am J Hum Genet 1995;57:846-52.
8. Bowles KR, Gajarski R, Porter P, et al. Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J Clin Invest 1996;98:1355-60.
9. Durand J-B, Bachinski LL, Bieling LC, et al. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation 1995;92:3387-9.
10. Siu BL, Niimura H, Osborne JA, et al. Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation 1999;99:1022-6.
11. Jung M, Poepping I, Perrot A, Ellmer AE, Reis A, Osterziel KJ. A family with autosomal dominant dilated cardiomyopathy maps to a novel locus in chromosome 2. Circulation 1998;98:Suppl I:I-246. abstract.
12. Olson TM, Michels VV, Thibodeau SN, Tai Y-S, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998;280:750-2.
13. Olson TM, Keating MT. Mapping a cardiomyopathy locus to chromosome 3p22-p25. J Clin Invest 1996;97:528-32.
14. Kass S, MacRae C, Graber HL, et al. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1. Nat Genet 1994;7:546-51.
15. Emery AEH. X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type). Clin Genet 1987;32:360-7.
16. Mawatari S, Katayama K. Scapuloperoneal muscular atrophy with cardiomyopathy: an X-linked recessive trait. Arch Neurol 1973;28:55-9.
17. Waters DD, Nutter DO, Hopkins LC, Dorney ER. Cardiac features of an unusual x-linked humeroperoneal neuromuscular disease. N Engl J Med 1975;293:1017-22.
18. Voit T, Krogmann O, Lenard HG, et al. Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics 1988; 19:62-71.
19. Wehnert M, Muntoni F. 60th ENMC International Workshop: non X-linked Emery-Dreifuss muscular dystrophy, 5-7 June 1998, Naarden, the Netherlands. Neuromuscul Disord 1999;9:115-20.
20. Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994; 8:323-7.
21. Nagano A, Koga R, Ogawa M, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996;12:254-9.
22. 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.
23. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-17.
24. Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-28.
25. Hoffman EP, Fischbeck KH, Brown RH, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988;318:1363-8.
26. Towbin JA, Hejtmancik JF, Brink P, et al. X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993;87:1854-65.
27. Muntoni F, Cau M, Ganau A, et al. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 1993;329:921-5.
28. Barresi R, Confalonieri V, Lanfossi M, et al. Concomitant deficiency of beta- and gamma-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects. Acta Neuropathol (Berl) 1997;94:28-35.
29. Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB. Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. Genomics 1996; 32:474-8.
30. Fisher DZ, Chaudhary N, Blobel G. cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. Proc Natl Acad Sci U S A 1986;83:6450-4.
31. Herrmann H, Aebi U. Intermediate filament assembly: fibrillogenesis is driven by decisive dimer-dimer interactions. Curr Opin Struct Biol 1998; 8:177-85.
32. Stuurman N, Heins S, Aebi U. Nuclear lamins: their structure, assembly, and interactions. J Struct Biol 1998;122:42-66.
33. Broers JLV, Machiels BM, Kuijpers HJH, et al. A-and B-type lamins are differentially expressed in normal human tissues. Histochem Cell Biol 1997;107:505-17.
34. Manilal S, Sewry CA, Pereboev A, et al. Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1999;8:353-9.
35. Bharati S, Surawicz B, Vidaillet HJ Jr, Lev M. Familial congenital sinus rhythm anomalies: clinical and pathological correlations. Pacing Clin Electrophysiol 1992;15:1720-9.
36. Gerace L. Nuclear lamina and organization of nuclear architecture. Trends Biochem Sci 1986;11:443-6.
37. Gerace L, Blobel G. The nuclear envelope lamina is reversibly depolymerized during mitosis. Cell 1980;19:277-87.
38. Spann TP, Moir RD, Goldman AE, Stick R, Goldman RD. Disruption of nuclear lamin organization alters the distribution of replication factors and inhibits DNA synthesis. J Cell Biol 1997;136:1201-12.
39. Fuchs E, Cleveland DW. A structural scaffolding of intermediate filaments in health and disease. Science 1998;279:514-9.
40. Ku N-O, Liao J, Chou C-F, Omary MB. Implications of intermediate filament protein phosphorylation. Cancer Metastasis Rev 1996;15:429-44.