A Rare Syndrome of
Publication/Presentation Date
1-1-2017
Abstract
The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia. They were found to have a homozygous intragenic deletion within the Glutamate receptor, ionotropic, delta 2 gene at exon 2. Our patients serve as an addition to the literature of previously reported children with this rare clinical syndrome associated with Glutamate receptor, ionotropic, delta 2 deletion.
Volume
4
First Page
2329048
Last Page
2329048
ISSN
2329-048X
Published In/Presented At
Veerapandiyan, A., Enner, S., Thulasi, V., & Ming, X. (2017). A Rare Syndrome of GRID2 Deletion in 2 Siblings. Child neurology open, 4, 2329048X17726168. https://doi.org/10.1177/2329048X17726168
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
28856174
Department(s)
Department of Pediatrics
Document Type
Article