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A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
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Other responses

  • Published on:
    Re:A p.R464 H variation in the CCDC88C gene may not cause a dominant form of spinocerebellar ataxia
    • Edwin Ho-Yin Chan, Professor
    • Other Contributors:
      • Allen C S Yu, Zhefan S Chen, Kwok-Fai Lau, Ting-Fung Chan

    To the Editor of Journal of Medical Genetics:

    Enabled by recent advances in sequencing technologies, genotypes from thousands of individuals are now available in online databases. While most of them aim to be the reference source of genotypes from healthy individuals, however, due to the lack of accompanying clinical data, geneticists now face the challenge of separating pathogenic mutations and rare polymorphisms. The fr...

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    Conflict of Interest:
    None declared.
  • Published on:
    A p.R464 H variation in the CCDC88C gene may not cause a dominant form of spinocerebellar ataxia
    • Yoshihisa Takiyama, Yoshihisa Takiyama, MD, PhD
    • Other Contributors:
      • Ying Wang, Kishin Koh, Yuta Ichinose, Kazumasa Shindo

    To the editor:

    The report that a novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia that appeared in your Journal (1) is of great interest. Although we identified the same heterozygous missense variation (c.1391G>A, p.R464H) as that reported (1) in a Japanese patient with autosomal dominant cerebellar ataxia (ADCA), we report here that this varia...

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    Conflict of Interest:
    None declared.