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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

Department of Neurology, Keio University School of Medicine, Tokyo, Japan. di045006@sc.itc.keio.ac.jp

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.

Published 28 March 2007 in Eur J Neurol, 14(4): 464-6.
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