Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy

Access this Article

Search this Article

Author(s)

    • ARIMURA Takuro
    • Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University
    • HAYASHI Yukiko K.
    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
    • MURAKAMI Terumi
    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
    • OYA Yasushi
    • Department of Neurology, National Center Hospital of Neurology and Psychiatry, NCNP
    • FUNABE Sayaka
    • Department of Neurology, Juntendo University School of Medicine
    • NISHINO Ichizo
    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
    • KIMURA Akinori
    • Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University

Abstract

<b>Background</b> Mutations in <i>FKTN</i> encoding for fukutin cause Fukuyama-type congenital muscular dystrophy characterized by severe muscle wasting and hypotonia with mental retardation. Fukuyama-type congenital muscular dystrophy is a recessive genetic trait. <i>FKTN</i> mutations in patients with dilated cardiomyopathy (DCM) have been investigated by our research group. The patients showed hyper-CKemia with mild or no muscle weakness and without mental retardation, suggesting that the clinical spectrum of <i>FKTN</i> mutations are wider than previously thought. The current study was designed to further explore the association of <i>FKTN</i> mutations with DCM or hypertrophic cardiomyopathy (HCM). <b>Methods and Results</b> A total of 172 patients with DCM, 144 patients with familial HCM and 384 control individuals were analyzed for <i>FKTN</i> mutations. There was a DCM patient who was a compound heterozygote of a 3-kb insertion mutation and a missense mutation Cys101Phe. The patient showed hyper-CKemia with mild muscle involvement and no brain involvement. In contrast, 2 other DCM patients and 3 controls were heterozygous for the insertion mutation and normal allele, showing that the heterozygous insertion mutation itself was not associated with DCM. No mutation was found in the HCM patients. <b>Conclusions</b> These observations indicated that the compound heterozygous <i>FKTN</i> mutation was a rare cause of DCM. Hyper-CKemia might be indicative of <i>FKTN</i> mutation in DCM. (<i>Circ J</i> 2009; <b>73:</b> 158 - 161)<br>

Journal

  • Circulation Journal

    Circulation Journal 73(1), 158-161, 2009-01-20

    Japanese Circulation Society

References:  22

Cited by:  2

Codes

  • NII Article ID (NAID)
    110007007967
  • NII NACSIS-CAT ID (NCID)
    AA11591968
  • Text Lang
    ENG
  • Article Type
    Journal Article
  • ISSN
    13469843
  • Data Source
    CJP  CJPref  NII-ELS  J-STAGE 
Page Top