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 |
Fingerprint
Keywords
- CADASIL
- Cysteine
- Disease onset
- Exon2
- Notch3
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
Novel mutation of the Notch3 gene in a Japanese patient with CADASIL. / Oki, K.; Nagata, E.; Ishiko, A.; Shimizu, A.; Tanaka, K.; Takahashi, K.; Tabira, T.; Katayama, T.; Suzuki, N.
In: European Journal of Neurology, Vol. 14, No. 4, 04.2007, p. 464-466.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Novel mutation of the Notch3 gene in a Japanese patient with CADASIL
AU - Oki, K.
AU - Nagata, E.
AU - Ishiko, A.
AU - Shimizu, A.
AU - Tanaka, K.
AU - Takahashi, K.
AU - Tabira, T.
AU - Katayama, T.
AU - Suzuki, N.
PY - 2007/4
Y1 - 2007/4
N2 - 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.
AB - 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.
KW - CADASIL
KW - Cysteine
KW - Disease onset
KW - Exon2
KW - Notch3
UR - http://www.scopus.com/inward/record.url?scp=33947604733&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33947604733&partnerID=8YFLogxK
U2 - 10.1111/j.1468-1331.2007.01641.x
DO - 10.1111/j.1468-1331.2007.01641.x
M3 - Article
C2 - 17389000
AN - SCOPUS:33947604733
VL - 14
SP - 464
EP - 466
JO - European Journal of Neurology
JF - European Journal of Neurology
SN - 1351-5101
IS - 4
ER -