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Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery‑Dreifuss muscular dystrophy

  • Authors:
    • Li Zhang
    • Hongrui Shen
    • Zhe Zhao
    • Qi Bing
    • Jing Hu
  • View Affiliations / Copyright

    Affiliations: Department of Cardiovascular Disorders, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051, P.R. China, Department of Neuromuscular Disorders, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051, P.R. China
    Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 5065-5071
    |
    Published online on: July 8, 2015
       https://doi.org/10.3892/mmr.2015.4065
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Abstract

The present study aimed to examine and analyze cardiac involvement in two Emery‑Dreifuss muscular dystrophy (EDMD) pedigrees caused by the c.1583 C→G mutation of the lamin A/C gene (LMNA). The clinical and genetic characteristics of members of two families with EDMD were evaluated by performing neurological examinations, skeletal muscle biopsies, cardiac evaluations, including electrocardiography, 24 h Holter, ultrasound cardiography and 99TcM‑MIBI‑gated myocardiac perfusion imaging, and genomic DNA sequencing. Family history investigations revealed an autosomal dominant transmission pattern of the disease in Family 1 and a sporadic case in Family 2. The three affected patients exhibited typical clinical features of EDMD, including joint contractures, muscle weakness and cardiac involvement. Muscle histopathological investigation revealed dystrophic features. In addition, each affected individual exhibited either cardiac arrhythmia, which was evident as sinus tachycardia, atrial flutter or complete atrioventricular inhibition. Cardiac imaging revealed dilated cardiomyopathy in two of the individuals, one of whom was presented with heart failure. The second patient presented with no significant abnormalities in cardiac structure or function. The three affected individuals exhibited a heterozygous missense mutation in the LMNA gene (c.1583 C→G), which caused a T528R amino acid change in the LMNA protein. In conclusion, the present study identified three patients with EDMD, exhibiting the same dominant LMNA mutation and presenting with a spectrum of severe cardiac abnormalities, including cardiac conduction system defects, cardiomyopathy and heart failure. As LMNA mutations have been associated with at least six clinical disorders, including EDMD, the results of the present study provide additional mutational and functional data, which may assist in further establishing LMNA mutational variation and disease pathogenesis.
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1 

Dreifuss FE and Hogan GR: Survival in x chromosomal muscular dystrophy. Neurology. 11:734–737. 1961. View Article : Google Scholar : PubMed/NCBI

2 

Emery AE: Emery Dreifuss muscular dystrophy-a 40 year retrospective. Neuromuscul Disord. 10:228–232. 2000. View Article : Google Scholar : PubMed/NCBI

3 

Emery AE and Dreifuss FE: Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 29:338–342. 1966. View Article : Google Scholar : PubMed/NCBI

4 

Becane HM, Bonne G, Varnouss, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, et al: 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. 2000. View Article : Google Scholar

5 

Emery AE: The muscular dystrophies. Lancet. 359:687–695. 2002. View Article : Google Scholar : PubMed/NCBI

6 

Bonne G, Di Barletta MR, Varnouss, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, et al: Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 21:285–288. 1999. View Article : Google Scholar : PubMed/NCBI

7 

Rankin J and Ellard S: The laminopathies: A clinical review. Clin Genet. 70:261–274. 2006. View Article : Google Scholar : PubMed/NCBI

8 

Waters DD, Nutter DO, Hopkins LC and Dorney ER: Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. N Engl J Med. 293:1017–1022. 1975. View Article : Google Scholar : PubMed/NCBI

9 

Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, 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. 341:1715–1724. 1999. View Article : Google Scholar : PubMed/NCBI

10 

Fisher DZ, Chaudhary N and Blobel G: 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. 1986. View Article : Google Scholar : PubMed/NCBI

11 

Goldman RD, Gruenbaum Y, Moir RD, Shumaker DK and Spann TP: Nuclear lamins: Building blocks of nuclear architecture. Genes Dev. 16:533–547. 2002. View Article : Google Scholar : PubMed/NCBI

12 

Moir RD, Spann TP and Goldman RD: The dynamic properties and possible functions of nuclear lamins. Int Rev Cytol. 162B:141–182. 1995.PubMed/NCBI

13 

Lin F and Worman HJ: Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem. 268:16321–16326. 1993.PubMed/NCBI

14 

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, 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. 48:170–180. 2000. View Article : Google Scholar : PubMed/NCBI

15 

Sanna T, Dello Russo A, Toniolo D, Vytopil M, Pelargonio G, De Martino G, Ricci E, Silvestri G, Giglio V, Messano L, et al: Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J. 24:2227–2236. 2003. View Article : Google Scholar : PubMed/NCBI

16 

Vytopil M, Benedettis, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, et al: Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet. 40:e1322003. View Article : Google Scholar : PubMed/NCBI

17 

Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C and Mestroni L: Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation. 101:473–476. 2000. View Article : Google Scholar : PubMed/NCBI

18 

Voit T, Krogmann O, Lenard HG, Neuen-Jacob E, Wechsler W, Goebel HH, Rahlf G, Lindinger A and Nienaber C: Emery-Dreifuss muscular dystrophy: Disease spectrum and differential diagnosis. Neuropediatrics. 19:62–71. 1988. View Article : Google Scholar : PubMed/NCBI

19 

Funakoshi M, Tsuchiya Y and Arahata K: Emerin and cardiomyopathy in Emery Dreifuss muscular dystrophy. Neuromuscul Disord. 9:108–114. 1999. View Article : Google Scholar : PubMed/NCBI

20 

van Berlo JH, Duboc D and Pinto YM: Often seen but rarely recognised: Cardiac complications of lamin A/C mutations. Eur Heart J. 25:812–814. 2004. View Article : Google Scholar : PubMed/NCBI

21 

Wehnert MS and Bonne G: The nuclear muscular dystrophies. Semin Pediatr Neurol. 9:100–107. 2002. View Article : Google Scholar : PubMed/NCBI

22 

Garg A, Cogulu O, Ozkinay F, Onay H and Agarwal AK: A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. J Clin Endocrinol Metab. 90:5259–5264. 2005. View Article : Google Scholar : PubMed/NCBI

23 

Shen JJ, Brown CA, Lupski JR and Potocki L: Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet. 40:854–857. 2003. View Article : Google Scholar : PubMed/NCBI

24 

Sébillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaïche A, et al: Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet. 40:560–567. 2003. View Article : Google Scholar : PubMed/NCBI

25 

Cenni V, Sabatelli P, Mattioli E, Marmirolis, Capanni C, Ognibene A, Squarzoni S, Maraldi NM, Bonne G and Columbaro M: et al Lamin A N-terminal phosphorylation is associated with myoblast activation: Impairment in Emery-Dreifuss muscular dystrophy. J Med Genet. 42:214–220. 2005. View Article : Google Scholar : PubMed/NCBI

26 

Krimm I, Ostlund C, Gilquin B, Couprie J, Hossenlopp P, Mornon JP, Bonne G, Courvalin JC, Worman HJ and Zinn-Justins: The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy and partial lipodystrophy. Structure. 10:811–823. 2002. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Zhang L, Shen H, Zhao Z, Bing Q and Hu J: Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery‑Dreifuss muscular dystrophy. Mol Med Rep 12: 5065-5071, 2015.
APA
Zhang, L., Shen, H., Zhao, Z., Bing, Q., & Hu, J. (2015). Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery‑Dreifuss muscular dystrophy. Molecular Medicine Reports, 12, 5065-5071. https://doi.org/10.3892/mmr.2015.4065
MLA
Zhang, L., Shen, H., Zhao, Z., Bing, Q., Hu, J."Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery‑Dreifuss muscular dystrophy". Molecular Medicine Reports 12.4 (2015): 5065-5071.
Chicago
Zhang, L., Shen, H., Zhao, Z., Bing, Q., Hu, J."Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery‑Dreifuss muscular dystrophy". Molecular Medicine Reports 12, no. 4 (2015): 5065-5071. https://doi.org/10.3892/mmr.2015.4065
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang L, Shen H, Zhao Z, Bing Q and Hu J: Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery‑Dreifuss muscular dystrophy. Mol Med Rep 12: 5065-5071, 2015.
APA
Zhang, L., Shen, H., Zhao, Z., Bing, Q., & Hu, J. (2015). Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery‑Dreifuss muscular dystrophy. Molecular Medicine Reports, 12, 5065-5071. https://doi.org/10.3892/mmr.2015.4065
MLA
Zhang, L., Shen, H., Zhao, Z., Bing, Q., Hu, J."Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery‑Dreifuss muscular dystrophy". Molecular Medicine Reports 12.4 (2015): 5065-5071.
Chicago
Zhang, L., Shen, H., Zhao, Z., Bing, Q., Hu, J."Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery‑Dreifuss muscular dystrophy". Molecular Medicine Reports 12, no. 4 (2015): 5065-5071. https://doi.org/10.3892/mmr.2015.4065
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