Neurogenetics

, Volume 9, Issue 1, pp 61–63

Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families

  • Tsukasa Saito
  • Yoshinobu Amakusa
  • Takashi Kimura
  • Osamu Yahara
  • Hitoshi Aizawa
  • Yoshio Ikeda
  • John W. Day
  • Laura P. W. Ranum
  • Kinji Ohno
  • Tohru Matsuura
Short Communication

DOI: 10.1007/s10048-007-0110-4

Cite this article as:
Saito, T., Amakusa, Y., Kimura, T. et al. Neurogenetics (2008) 9: 61. doi:10.1007/s10048-007-0110-4

Abstract

Myotonic dystrophy type 2 (DM2) is caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the ZNF9 gene on chromosome 3q21. All studied DM2 mutations have been reported in Caucasians and share an identical haplotype, suggesting a common founder. We identified a Japanese patient with DM2 and showed that the affected haplotype is distinct from the previously identified DM2 haplotype shared among Caucasians. These data strongly suggest that DM2 expansion mutations originate from separate founders in Europe and Japan and are more widely distributed than previously recognized.

Keywords

Myotonic dystrophy type 2 CCTG tetranucleotide repeat expansion Founder haplotype 

Supplementary material

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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Tsukasa Saito
    • 1
    • 3
  • Yoshinobu Amakusa
    • 2
  • Takashi Kimura
    • 1
  • Osamu Yahara
    • 1
  • Hitoshi Aizawa
    • 3
  • Yoshio Ikeda
    • 4
    • 5
  • John W. Day
    • 4
    • 6
  • Laura P. W. Ranum
    • 4
    • 5
  • Kinji Ohno
    • 2
  • Tohru Matsuura
    • 2
  1. 1.Department of NeurologyNational Dohoku HospitalAsahikawaJapan
  2. 2.Division of Neurogenetics and Bioinformatics, Center for Neurological Diseases and CancerNagoya University Graduate School of MedicineNagoyaJapan
  3. 3.Division of Neurology, Department of Internal MedicineAsahikawa Medical CollegeAsahikawaJapan
  4. 4.Institute of Human GeneticsUniversity of MinnesotaMinneapolisUSA
  5. 5.Department of Genetics, Cell Biology, and DevelopmentUniversity of MinnesotaMinneapolisUSA
  6. 6.Department of NeurologyUniversity of MinnesotaMinneapolisUSA

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