CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y).
We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the case of rare mutations outside the mutation hotspots in NOTCH3 as shown in this patient.
Ishida
Chiho
C
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa.
Sakajiri
Ken-ichi
K
Yoshita
Mitsuhiro
M
Joutel
Anne
A
Cave-Riant
Florence
F
Yamada
Masahito
M
D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001706:Biopsy; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005091:Exons; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008854:Microscopy, Electron; D009154:Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D012867:Skin / Q000378:metabolism / Q000473:pathology
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch