Novel mutation of the Notch3 gene in a Japanese patient with CADASIL.
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.
Oki
K
K
Department of Neurology, Keio University School of Medicine, Tokyo, Japan. di045006@sc.itc.keio.ac.jp
Nagata
E
E
Ishiko
A
A
Shimizu
A
A
Tanaka
K
K
Takahashi
K
K
Tabira
T
T
Katayama
T
T
Suzuki
N
N
D000328:Adult; D044466:Asian People; D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D008575:Meniere Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D046529:Microscopy, Electron, Transmission; D020125:Mutation, Missense; D010375:Pedigree; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D012867:Skin / Q000473:pathology; D014012:Tinnitus / Q000503:physiopathology; D014717:Vertigo / Q000503:physiopathology
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch