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Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

Zeynep Selcan Şanli1, Özlem Anlaş2

  • 1Department of Neurology, Adana City Training and Research Hospital, University of Health Sciences, Adana, Turkey.

Molecular Syndromology
|April 8, 2024
PubMed

Insights

Researchers identified a new NOTCH3 gene variant in three patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This discovery expands the known genetic causes of this familial small vessel disease.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a prevalent adult familial cerebral small vessel disease.
  • It is primarily caused by variants in the NOTCH3 gene, presenting with diverse clinical and radiological features.

Purpose of the Study:

  • To investigate the clinical, radiological, and genetic variability in patients undergoing NOTCH3 variant analysis.
  • To identify and characterize novel genetic variants associated with CADASIL.

Main Methods:

  • Comprehensive clinical and neuropsychological assessments.
  • Cerebral magnetic resonance imaging (MRI) and Doppler sonography.
  • Next-generation sequencing for NOTCH3 gene variant detection.

Main Results:

  • A novel heterozygous c.380C>T pathogenic variant in the NOTCH3 gene was identified in three patients.
  • This variant leads to a Proline to Leucine substitution at the 127th amino acid position.
  • The identified variant is previously unreported.

Conclusions:

  • The discovery of this novel NOTCH3 variant expands the known genetic spectrum of CADASIL.
  • This finding may facilitate further research into NOTCH3-associated diseases and potential therapeutic strategies.
Abstract

Keywords:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyExonNOTCH3Next-generation sequencingNovel variant

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