Journal of the Formosan Medical Association
Volume 106, Issue 2, Supplement , Pages S27-S31 , 2007

Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

  • Wen-Chen Liang

      Affiliations

    • Departments of Pediatrics and Clinical Laboratory, Kaohsiung Medical University Hospital, NCNP, Tokyo, Japan
    • ,
  • Chung-Yee Yuo

      Affiliations

    • Department of Biomedical Science and Environmental Biology, College of Life Sciences, NCNP, Tokyo, Japan
    • ,
  • Chun-Ya Liu

      Affiliations

    • Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
    • ,
  • Chee-Siong Lee

      Affiliations

    • Division of Cardiology, Department of Internal Medicine, Kaohsiung Medical University Hospital, NCNP, Tokyo, Japan
    • ,
  • Kanako Goto

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan
    • ,
  • Yukiko K. Hayashi

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan
    • ,
  • Yuh-Jyh Jong

      Affiliations

    • Departments of Pediatrics and Clinical Laboratory, Kaohsiung Medical University Hospital, NCNP, Tokyo, Japan
    • Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Yuh-Jyh Jong Departments of Pediatrics and Clinical Laboratory, Kaohsiung Medical University Hospital, 100 Tz-You 1st Road, Kaohsiung 807, Taiwan

Received 2 December 2005 ,Revised 9 January 2006 ,Accepted 7 March 2006.

References 

  1. Emery AE . Emery-Dreifuss muscular dystrophy-a 40 year retrospective . Neuromuscul Disord . 2000;10:228–232
  2. Bione S , Maestrini E , Rivella S , et al.   Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy . Nat Genet . 1994;8:323–327
  3. Bonne G , Di Barletta MR , Varnous S , et al.   Mutations in the gene encoding lamin A/C cause autosomal dominant EDMD . Nat Genet . 1999;21:285–288
  4. MacLeod HM , Culley MR , Huber JM , et al.   Lamin A/C truncation in dilated cardiomyopathy with conduction disease . BMC Med Genet . 2003;4:e4
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  6. Navarro CL , De Sandre-Giovannoli A , Bernard R , et al.   Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy . Hum Mol Genet . 2004;13:2493–2503
  7. Steinle NI , Kazlauskaite R , Imumorin IG , et al.   Variation in the lamin A/C gene: associations with metabolic syndrome . Arterioscler Thromb Vasc Biol . 2004;24:1708–1713
  8. 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;341:1715–1724
  9. 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;48:170–180
  10. Vytopil M , Benedetti S , Ricci E , et al.   Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes . J Med Genet . 2003;40:e132
  11. Taylor MR , Fain PR , Sinagra G , et al.   Natural history of dilated cardiomyopathy due to lamin A/C gene mutations . J Am Coll Cardiol . 2003;41:771–780
  12. Boriani G , Gallina M , Merlini L , et al.   Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy . Stroke . 2003;34:901–908
  13. Sanna T , Russo AD , Toniolo D , et al.   Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations . Eur Heart J . 2003;24:2227–2236
  14. Van Berlo JH , De Voogt WG , Van Der Kooi AJ , et al.   Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? . J Mol Med . 2005;83:79–83

PII: S0929-6646(09)60349-1

doi: 10.1016/S0929-6646(09)60349-1

Journal of the Formosan Medical Association
Volume 106, Issue 2, Supplement , Pages S27-S31 , 2007

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