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 journalArticlepeer-review

7 Citations (Scopus)


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
Issue number4
Publication statusPublished - 2007 Apr
Externally publishedYes


  • Cysteine
  • Disease onset
  • Exon2
  • Notch3

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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