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Related Experiment Video

Updated: Jun 10, 2025

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Family Lore, a Variant of Uncertain Significance, and CADASIL.

Rhys Duarte1, Liesbeth Vossaert1,2, Sandra A Darilek1,3

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Texas, USA.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|October 21, 2024
PubMed
Summary

A rare NOTCH3 gene variant, initially of uncertain significance, was identified in an infant with severe symptoms. This variant was reclassified as likely pathogenic, explaining the infant's condition and other family health issues.

Keywords:
CADASILcerebrovascular disordersfamily historygenetic diseasesinborn

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Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Infants can present with severe, confounding symptoms requiring extensive diagnostic workups.
  • Genetic factors are often considered, but initial assessments may not always point towards a clear genetic etiology.
  • Trio exome sequencing is a powerful tool for diagnosing rare and complex pediatric conditions.

Purpose of the Study:

  • To investigate the underlying cause of an infant's severe illness.
  • To evaluate the role of genetic variants, specifically in the NOTCH3 gene, in the infant's presentation.
  • To re-evaluate a variant of uncertain significance (VUS) based on clinical and family history data.

Main Methods:

  • Clinical stabilization of the infant.
  • Trio exome sequencing (parents and infant).
  • Analysis of the NOTCH3 gene for paternally inherited variants.
  • Correlation of genetic findings with infant's symptoms and family history.
  • Literature review and expert collaboration for variant reclassification.

Main Results:

  • Identification of a paternally inherited NOTCH3 variant of uncertain significance (VUS) in the infant.
  • Infant's symptoms (hematemesis, epistaxis, gastric ulcers) did not align with typical CADASIL presentations.
  • Family history revealed paternal relatives with seizures and mood disturbances.
  • Reclassification of the NOTCH3 VUS to likely pathogenic based on integrated data.
  • A unifying diagnosis was proposed for the family's constellation of symptoms.

Conclusions:

  • The NOTCH3 gene can present with atypical phenotypes beyond classic CADASIL.
  • Trio exome sequencing combined with thorough family history analysis is crucial for diagnosing complex genetic disorders.
  • Reclassification of VUS is essential for accurate diagnosis and genetic counseling.