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 language | English |
---|---|
Pages (from-to) | 464-466 |
Number of pages | 3 |
Journal | European Journal of Neurology |
Volume | 14 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2007 Apr |
Keywords
- CADASIL
- Cysteine
- Disease onset
- Exon2
- Notch3
ASJC Scopus subject areas
- Neurology
- Clinical Neurology