Novel mutation of the Notch3 gene in a Japanese patient with CADASIL

K. Oki, E. Nagata, A. Ishiko, A. Shimizu, K. Tanaka, K. Takahashi, T. Tabira, T. Katayama, N. Suzuki

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

We report a novel missense mutation of the Notch3 gene in a Japanese family with CADASIL. The Cys49Gly mutation in this family is located in exon 2 of the Notch3 gene. Most of the documented Notch3 gene mutations occur in exons 3 or 4. On the other hand, there are few reports around the world of mutations in exon 2 of the Notch3 gene, and this is the first report of a mutation in exon 2 of the gene in a Japanese family. In general, CADASIL mutations involve a cysteine residue. Such mutations may influence the tertiary structure of the Notch3 protein, resulting in protein dysfunction. Thus, the CADASIL in the present case may be a consequence of the mutation in exon 2 causing a structural change in the Notch3 protein.

Original languageEnglish
Pages (from-to)464-466
Number of pages3
JournalEuropean Journal of Neurology
Volume14
Issue number4
DOIs
Publication statusPublished - 2007 Apr

Keywords

  • CADASIL
  • Cysteine
  • Disease onset
  • Exon2
  • Notch3

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Oki, K., Nagata, E., Ishiko, A., Shimizu, A., Tanaka, K., Takahashi, K., Tabira, T., Katayama, T., & Suzuki, N. (2007). Novel mutation of the Notch3 gene in a Japanese patient with CADASIL. European Journal of Neurology, 14(4), 464-466. https://doi.org/10.1111/j.1468-1331.2007.01641.x