Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation

Clinical Genetics

Volumn 57, Issue 6, 2000, Pages 423-429

  Park, Kye Yoon ^c   Dalakas, Marinos C ^c   Semino Mora, Christina ^c   Lee, Hee Suk ^c   Litvak, Svetlana ^c   Takeda, Kazuyo ^a   Ferrans, Victor J ^a   Goldfarb, Lev G ^b  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NONE

Author keywords

Cardiomyopathy; De novo mutation; Desmin gene; Genotype phenotype correlation; Skeletal myopathy; Sporadic disease

Indexed keywords

COMPLEMENTARY DNA; DESMIN; MICROSATELLITE DNA;

ADULT; ARTICLE; ATRIOVENTRICULAR BLOCK; CARDIOMYOPATHY; CASE REPORT; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; MALE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE WEAKNESS; MYOPATHY; NUCLEOTIDE SEQUENCE; PACEMAKER; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION MAPPING;

ADULT; AGED; BONE DISEASES; DESMIN; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FAMILY HEALTH; FEMALE; HAPLOTYPES; HEART DISEASES; HETEROZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MICROSCOPY, FLUORESCENCE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLES; MUSCULAR DISEASES; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 0034120197     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570604.x     Document Type: Article

References (32)

1. Lazarides E. Intermediate filaments as mechanical integrators of cellular space. Nature 1980: 238: 249-256.
2. Milner DJ, Weitzer G, Tran D, Bradley A, Capetanaki Y. Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J Cell Biol 1996: 134: 1255-1270.
3. Thornell L-E, Carlsson L, Li Z, Mericskay M, Paulin D. Null mutation in the desmin gene gives rise to a cardiomyopathy. J Mol Cell Cardiol 1997: 29: 2107-2124.
4. Fuchs E, Weber K. Intermediate filaments: structure, dynamics, function, and disease. Annu Rev Biochem 1994: 63: 345-382.
5. Viegas-Péquignot E, Li Z, Dutrillaux B, Apiou F, Paulin D. Assignment of human desmin gene to band 2q35 by non-radioactive in situ hybridization. Hum Genet 1989: 83: 33-36.
6. Li Z, Lilienbaum A, Butler-Browne G, Paulin D. Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development. Gene 1989: 78: 243-254.
7. Goebel HH. Desmin-related neuromuscular disorders. Muscle Nerve 1995: 18: 1306-1320.
8. Fardeau M, Godet-Guillain J, Tome F, Collin H, Gafety S, Vernant P. Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarcoplasmique d'un materiel granulorilamentaire dense en microscopie electronique. Rev Neurol 1978: 6-7: 411-425.
9. Goebel HH, Muller J, Gillen HW, Merritt AD. Autosomal dominant 'spheroid body myopathy'. Muscle Nerve 1978: 1: 14-26.
10. Horowitz SH, Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 1994: 17: 151-160.
11. Helliwell TR, Green ART, Green A, Edwards RHT. Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin. J Neurol Sci 1994: 124: 174-187.
12. Caron A, Viader F, Lechevalier B, Chapon F. Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study. Acta Neuropathol 1995: 90: 150-157.
13. Stoeckel M-E, Osborn M, Porte A, Sacrez A, Batzenschlager A, Weber K. An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments. Virchows Arch A Path Anat Histol 1981: 393: 53-60.
14. De Bleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. 2. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 1996: 55: 563-577.
15. Goldfarb LG, Park K-Y, Cervenakova L et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998: 19: 402-403.
16. Munoz-Marmol AM, Strasser G, Isamat M et al. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci USA 1998: 95: 11312-11317.
17. Li D, Tapscoft T, Gonzalez O et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999: 100: 461-464.
18. Sjoberg G, Saavedra-Matiz CA, Rosen DR et al. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Hum Mol Genet 1999: 8: 2191-2198.
19. Vicart P, Caron A, Guicheney P et al. A missense mutation in the (B-crystallin chaperon gene causes a desmin-related myopathy. Nat Genet 1998: 20: 92-95.
20. Ohno Y, Sebetan IM, Akaishi S. A simple method for calculating the probability of excluding paternity with any number of codominant alleles. Forensic Sci Int 1982: 19: 93-98.
21. Arbustini E, Morbini P, Grasso M et al. Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. J Am Coll Cardiol 1998: 31: 645-653.
22. Sabatelli M, Bertini E, Ricci E et al. Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. J Neurol Sci 1992: 109: 1-10.
23. Bertini E, Bosman C, Bevilacqua M et al. Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments. Eur J Pediatr 1990: 149: 856-858.
24. Cameron CH, Mirakhur M, Allen IV. Desmin myopathy with cardiomyopathy. Acta Neuropathol 1995: 89: 560-566.
25. Telerman-Toppet N, Bauherz G, Noel S. Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage. Clin Neuropathol 1991: 10: 61-64.
26. Moloney DM, Slaney SF, Oldridge M et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996: 13: 48-53.
27. Wilkin DJ, Szabo JK, Cameron R et al. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 1998: 63: 711-716.
28. Chandley AC. On the parental origin of de novo mutation in man. J Med Genet 1991: 28: 217-223.
29. Raats JMH, Henderik JBJ, Verdijk M et al. Assembly of carboxy-terminally deleted desmin in vimentin-free cells. Eur J Cell Biol 1991: 56: 84-103.
30. Raats JM, Schaart G, Henderik JB et al. Muscle-specific expression of a dominant negative desmin mutant in transgenic mice. Eur J Cell Biol 1996: 71: 221-236.
31. Yu KR, Hijikata T, Lin ZX, Sweeny HL, Englander SW, Holtzer H. Truncated desmin in PtK2 cells induces desmin-vimentin-cytokeratin coprecipitation, involution of intermediate filament networks, and nuclear fragmentation: a model for many degenerative diseases. Proc Natl Acad Sci USA 1994: 91: 2497-2501.
32. Hedberg KK, Chen L-B. Absence of intermediate filaments in a human adrenal cortex carcinoma-derived cell line. Exp Cell Res 1986: 163: 509-517.