CADASIL with a Novel Mutation in Exon 7 of NOTCH3 (C388Y)

Chiho Ishida; Ken-ichi Sakajiri; Mitsuhiro Yoshita; Anne Joutel; Florence Cave-Riant; Masahito Yamada

doi:10.2169/internalmedicine.45.1692

CASE REPORTS

CADASIL with a Novel Mutation in Exon 7 of NOTCH3 (C388Y)

Chiho Ishida, Ken-ichi Sakajiri, Mitsuhiro Yoshita, Anne Joutel, Florence Cave-Riant, Masahito Yamada

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Keywords: CADASIL, NOTCH3, mutation, exon 7

JOURNAL OPEN ACCESS

2006 Volume 45 Issue 16 Pages 981-985

DOI https://doi.org/10.2169/internalmedicine.45.1692

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Abstract

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.

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