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

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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.

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Acknowledgements

We are grateful to our patient and her family for participating. This study was supported by research Grants-in-Aid from the Ministry of Health, Labor and Welfare of Japan (17A-1, 17A-8, 17A-10) (K.O., T.K.), Takeda Science Foundation, Japan (K.O., T.M.), Sankyo Foundation of Life Science, Kato Memorial Trust for Nanbyo Research, Nagono Medical Foundation, Nitto Foundation, Japan Brain Foundation, Japan (T.M.).

The experiments performed comply with current legislation in Japan.

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Authors and Affiliations

  1. Department of Neurology, National Dohoku Hospital, Asahikawa, Japan

    Tsukasa Saito, Takashi Kimura & Osamu Yahara

  2. Division of Neurogenetics and Bioinformatics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan

    Yoshinobu Amakusa, Kinji Ohno & Tohru Matsuura

  3. Division of Neurology, Department of Internal Medicine, Asahikawa Medical College, Asahikawa, Japan

    Tsukasa Saito & Hitoshi Aizawa

  4. Institute of Human Genetics, University of Minnesota, Minneapolis, MN, USA

    Yoshio Ikeda, John W. Day & Laura P. W. Ranum

  5. Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA

    Yoshio Ikeda & Laura P. W. Ranum

  6. Department of Neurology, University of Minnesota, Minneapolis, MN, USA

    John W. Day

Authors
  1. Tsukasa Saito
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  2. Yoshinobu Amakusa
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  3. Takashi Kimura
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  4. Osamu Yahara
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  5. Hitoshi Aizawa
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  6. Yoshio Ikeda
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  7. John W. Day
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  8. Laura P. W. Ranum
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  9. Kinji Ohno
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  10. Tohru Matsuura
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Corresponding author

Correspondence to Tohru Matsuura.

Additional information

Saito and Amakusa have contributed equally to the work.

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Saito, T., Amakusa, Y., Kimura, T. et al. Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. Neurogenetics 9, 61–63 (2008). https://doi.org/10.1007/s10048-007-0110-4

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  • DOI: https://doi.org/10.1007/s10048-007-0110-4

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