Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion

Am J Med Genet A. 2004 Nov 1;130A(4):393-4. doi: 10.1002/ajmg.a.30032.

Abstract

Sotos syndrome, a disorder with macrocephaly, mental delay, and facial anomalies, has been noted to have an increased risk of neoplasia. Here, we report a patient with a microdeletion in nuclear receptor SET-domain-containing protein (NSD1) and a previously undescribed intracranial ganglioglioma.

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Child
  • Face / abnormalities
  • Ganglioglioma / genetics*
  • Ganglioglioma / pathology
  • Gene Deletion*
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Intellectual Disability / genetics
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Nuclear Proteins / genetics*
  • Risk Factors
  • Skull / abnormalities
  • Syndrome
  • Zinc Fingers

Substances

  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • NSD1 protein, human