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April 3, 2026Molecular Syndromology

Molecular Genetic Confirmation of Jaffe–Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant

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Authors

AKAbdülkerim KolkiranFBFirdevs Dinçsoy BirBEBettina Ergün

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Overview

Case report confirms a new NF1 variant in a 13-year-old with Jaffe-Campanacci Syndrome, suggesting genetic testing's importance.

Key Points

  • This paper aims to present a case of Jaffe–Campanacci Syndrome confirmed through genetic testing, highlighting its rarity and complexities.
  • Clinical evaluation of a 13-year-old boy with symptoms of JCS was conducted.
  • Genetic testing identified a pathogenic splice-site variant in the NF1 gene.
  • Sanger sequencing was performed on tissue from the patient's cystic lesions.
  • Radiological exams included MRI to assess brain changes and lytic bone lesions.
  • Identification of a third pathogenic NF1 variant linked to JCS.
  • Confirmation of molecular diagnosis through genetic testing and Sanger sequencing.
  • Radiological findings correlated with NF1 characteristics, supporting the diagnosis.
  • The patient exhibited additional symptoms like mild intellectual disability and ADHD.

Cite This Study

Kolkiran et al. (2026) studied this question.

synapsesocial.com/papers/69cf5cd15a333a821460a616https://doi.org/10.1159/000551849
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