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

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.

journal_name

Eur J Neurol

journal_title

European journal of neurology

authors

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

doi

10.1111/j.1468-1331.2007.01641.x

subject

Has Abstract

pub_date

2007-04-01 00:00:00

pages

464-6

issue

4

eissn

1351-5101

issn

1468-1331

pii

ENE1641

journal_volume

14

pub_type

杂志文章

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