Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient

Different mutations in glutamate receptor ionotropic delta 2 (GRID2) gene cause cerebellar ataxia in human. We report the largest homozygous deletion of the GRID2 gene reported to date, most probably causing complete loss of the gene product. Our patient presents mainly early onset cerebellar ataxia...

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Autores principales: Taghdiri, Maryam, Kashef, Atie, Abbassi, Golemaryam, Moshtagh, Azadeh, Sadatian, Neda, Fardaei, Majid, Najafi, Kimia, Kariminejad, Roxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552953/
https://www.ncbi.nlm.nih.gov/pubmed/31183084
http://dx.doi.org/10.1002/ccr3.2020
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author Taghdiri, Maryam
Kashef, Atie
Abbassi, Golemaryam
Moshtagh, Azadeh
Sadatian, Neda
Fardaei, Majid
Najafi, Kimia
Kariminejad, Roxana
author_facet Taghdiri, Maryam
Kashef, Atie
Abbassi, Golemaryam
Moshtagh, Azadeh
Sadatian, Neda
Fardaei, Majid
Najafi, Kimia
Kariminejad, Roxana
author_sort Taghdiri, Maryam
collection PubMed
description Different mutations in glutamate receptor ionotropic delta 2 (GRID2) gene cause cerebellar ataxia in human. We report the largest homozygous deletion of the GRID2 gene reported to date, most probably causing complete loss of the gene product. Our patient presents mainly early onset cerebellar ataxia, cerebellar atrophy, nystagmus, and developmental delay with the least amount of intellectual disability.
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spelling pubmed-65529532019-06-10 Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient Taghdiri, Maryam Kashef, Atie Abbassi, Golemaryam Moshtagh, Azadeh Sadatian, Neda Fardaei, Majid Najafi, Kimia Kariminejad, Roxana Clin Case Rep Case Reports Different mutations in glutamate receptor ionotropic delta 2 (GRID2) gene cause cerebellar ataxia in human. We report the largest homozygous deletion of the GRID2 gene reported to date, most probably causing complete loss of the gene product. Our patient presents mainly early onset cerebellar ataxia, cerebellar atrophy, nystagmus, and developmental delay with the least amount of intellectual disability. John Wiley and Sons Inc. 2019-05-04 /pmc/articles/PMC6552953/ /pubmed/31183084 http://dx.doi.org/10.1002/ccr3.2020 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Taghdiri, Maryam
Kashef, Atie
Abbassi, Golemaryam
Moshtagh, Azadeh
Sadatian, Neda
Fardaei, Majid
Najafi, Kimia
Kariminejad, Roxana
Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient
title Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient
title_full Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient
title_fullStr Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient
title_full_unstemmed Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient
title_short Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient
title_sort further delineation of the phenotype caused by a novel large homozygous deletion of grid2 gene in an adult patient
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552953/
https://www.ncbi.nlm.nih.gov/pubmed/31183084
http://dx.doi.org/10.1002/ccr3.2020
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