Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A case of mild CADASIL patient with a novel heterozygous NOTCH3 variant

  • Choi, WooChan (Department of Neurology, Kyungpook National University Hospital) ;
  • Hwang, Yang-Ha (Department of Neurology, Kyungpook National University Hospital) ;
  • Lee, Jong-Mok (Department of Neurology, Kyungpook National University Hospital)
  • Received : 2021.11.05
  • Accepted : 2021.12.05
  • Published : 2022.06.30
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Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease caused by mutations in the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The spectrum of clinical manifestations is broad, ranging from asymptomatic to typical ischemic stroke, and mainly depends on the location of the mutations. We describe the case of a 76-year-old female without apparent neurological deficits. However, brain magnetic resonance imaging revealed confluent lesions in the white matter. Direct sequencing of the NOTCH3 gene revealed a novel pathogenic mutation, c.811T>A, which results in a mild phenotype. Therefore, this report will expand the current knowledge in regards to the mutations that can cause CADASIL.

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References

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