Neuromuscular Disorders
Volume 20, Issue 8 , Pages 524-530 , August 2010

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea

  • Bung Chan Lim

      Affiliations

    • Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, South Korea
    • These authors contributed equally to this work.
    • ,
  • Chang-Seok Ki

      Affiliations

    • Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
    • These authors contributed equally to this work.
    • ,
  • Jong-Won Kim

      Affiliations

    • Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
    • ,
  • Anna Cho

      Affiliations

    • Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, South Korea
    • ,
  • Min Jung Kim

      Affiliations

    • Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, South Korea
    • ,
  • Hee Hwang

      Affiliations

    • Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, South Korea
    • ,
  • Ki Joong Kim

      Affiliations

    • Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, South Korea
    • ,
  • Yong Seung Hwang

      Affiliations

    • Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, South Korea
    • ,
  • Woong Yang Park

      Affiliations

    • Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, South Korea
    • ,
  • Yun-Jung Lim

      Affiliations

    • Department of Radiology, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, South Korea
    • ,
  • In One Kim

      Affiliations

    • Department of Radiology, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, South Korea
    • ,
  • Jun Su Lee

      Affiliations

    • Department of Pediatrics, Severance Children’s Hospital, Yonsei University College of Medicine, Seoul, South Korea
    • ,
  • Jong Hee Chae

      Affiliations

    • Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, South Korea
    • Corresponding Author InformationCorresponding author. Address: Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, 28 Yongon-Dong, Jongno-Gu, Seoul 110-744, South Korea. Tel.: +82 2 2072 3622; fax: +82 2 743 3455.

Received 16 April 2010 ,Revised 27 May 2010 ,Accepted 9 June 2010.

References 

  1. Michele DE, Barresi R, Kanagawa M, et al. Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417–422
  2. Moore SA, Saito F, Chen J, et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature. 2002;418:422–425
  3. Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394:388–392
  4. Yoshida A, Kobayashi K, Manya H, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 2001;1:717–724
  5. Brockington M, Blake DJ, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet. 2001;69:1198–1209
  6. Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, et al. Mutations in the O-mannosyl transferase gene POMT1 give rise to the severe neuronal migration disorder Walker–Warburg syndrome. Am J Hum Genet. 2002;71:1033–1043
  7. Longman C, Brockington M, Torelli S, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003;12:2853–2861
  8. van Reeuwijk J, Janssen M, van den Elzen C, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker–Warburg syndrome. J Med Genet. 2005;42:907–912
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  15. Watanabe M, Kobayashi K, Jin F, et al. Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. Am J Med Genet A. 2005;138:344–348
  16. Kondo-Iida E, Kobayashi K, Watanabe M, et al. Novel mutations and genotype–phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet. 1999;8:2303–2309
  17. Gurvich OL, Tuohy TM, Howard MT, et al. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Ann Neurol. 2008;63:81–89
  18. de Bernabe DB, van Bokhoven H, van Beusekom E, et al. A homozygous nonsense mutation in the fukutin gene causes a Walker–Warburg syndrome phenotype. J Med Genet. 2003;40:845–848
  19. Godfrey C, Escolar D, Brockington M, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol. 2006;60:603–610
  20. Manzini MC, Gleason D, Chang BS, et al. Ethnically diverse causes of Walker–Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 2008;29:E231–E241
  21. Silan F, Yoshioka M, Kobayashi K, et al. A new mutation of the fukutin gene in a non-Japanese patient. Ann Neurol. 2003;53:392–396
  22. Mercuri E, Topaloglu H, Brockington M, et al. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol. 2006;63:251–257

PII: S0960-8966(10)00259-2

doi: 10.1016/j.nmd.2010.06.005

Neuromuscular Disorders
Volume 20, Issue 8 , Pages 524-530 , August 2010

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