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A Rare Syndrome of GRID2 Deletion in 2 Siblings
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, ionotr...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570108/ https://www.ncbi.nlm.nih.gov/pubmed/28856174 http://dx.doi.org/10.1177/2329048X17726168 |
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author | Veerapandiyan, Aravindhan Enner, Stephanie Thulasi, Venkatraman Ming, Xue |
author_facet | Veerapandiyan, Aravindhan Enner, Stephanie Thulasi, Venkatraman Ming, Xue |
author_sort | Veerapandiyan, Aravindhan |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5570108 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-55701082017-08-30 A Rare Syndrome of GRID2 Deletion in 2 Siblings Veerapandiyan, Aravindhan Enner, Stephanie Thulasi, Venkatraman Ming, Xue Child Neurol Open Brief Communication 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. SAGE Publications 2017-08-22 /pmc/articles/PMC5570108/ /pubmed/28856174 http://dx.doi.org/10.1177/2329048X17726168 Text en © The Author(s) 2017 http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Brief Communication Veerapandiyan, Aravindhan Enner, Stephanie Thulasi, Venkatraman Ming, Xue A Rare Syndrome of GRID2 Deletion in 2 Siblings |
title | A Rare Syndrome of GRID2 Deletion in 2 Siblings |
title_full | A Rare Syndrome of GRID2 Deletion in 2 Siblings |
title_fullStr | A Rare Syndrome of GRID2 Deletion in 2 Siblings |
title_full_unstemmed | A Rare Syndrome of GRID2 Deletion in 2 Siblings |
title_short | A Rare Syndrome of GRID2 Deletion in 2 Siblings |
title_sort | rare syndrome of grid2 deletion in 2 siblings |
topic | Brief Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570108/ https://www.ncbi.nlm.nih.gov/pubmed/28856174 http://dx.doi.org/10.1177/2329048X17726168 |
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