Mutation Analysis of the Glycerol-3 Phosphate Dehydrogenase-1 Like (GPD1L) Gene in Japanese Patients With Brugada Syndrome

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  • Makiyama Takeru
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
  • Akao Masaharu
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
  • Haruna Yoshisumi
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
  • Tsuji Keiko
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
  • Doi Takahiro
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
  • Ohno Seiko
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
  • Nishio Yukiko
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
  • Kita Toru
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine
  • Horie Minoru
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science

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Abstract

Brugada syndrome is an inherited arrhythmic disorder, and mutations in the SCN5A gene, encoding cardiac sodium channels, are identified in approximately 15% of cases. A novel causative gene (glycerol-3 phosphate dehydrogenase-1 like; GPD1L) has been reported, and in the present study, 80 unrelated Japanese patients were screened for GPD1L mutations: 1 synonymous mutation was identified, as well as 1 intronic variant, both of which were absent in 220 control alleles. Additionally, a single-nucleotide polymorphism was detected in 4 patients. No non-synonymous mutations were found. GPD1L does not appear to be a major cause of Brugada syndrome in the Japanese population. (Circ J 2008; 72: 1705 - 1706)<br>

Journal

  • Circulation Journal

    Circulation Journal 72 (10), 1705-1706, 2008

    The Japanese Circulation Society

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