Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion

Matthew A Deardorff; Melissa Maisenbacher; Elaine H Zackai

doi:10.1002/ajmg.a.30032

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.

Authors

Matthew A Deardorff¹, Melissa Maisenbacher, Elaine H Zackai

Affiliation

¹ Division of Clinical Genetics, Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104, USA.

PMID: 15455365
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