CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y)

Intern Med. 2006;45(16):981-5. doi: 10.2169/internalmedicine.45.1692. Epub 2006 Sep 15.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People / genetics
  • Base Sequence
  • Biopsy
  • CADASIL / diagnosis
  • CADASIL / genetics*
  • CADASIL / metabolism
  • CADASIL / pathology
  • Exons*
  • Female
  • Humans
  • Immunohistochemistry
  • Magnetic Resonance Imaging
  • Microscopy, Electron
  • Mutation*
  • Receptor, Notch3
  • Receptors, Notch / genetics*
  • Skin / metabolism
  • Skin / pathology

Substances

  • NOTCH3 protein, human
  • Receptor, Notch3
  • Receptors, Notch