Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report

BACKGROUND: As sequencing technology has advanced in recent years, a series of synapse-related gene variants have been reported to be associated with autism spectrum disorders (ASDs). The α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor is a subtype of the ionotropic glutamate r...

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Autores principales: Cai, Qianyun, Zhou, Zhongjie, Luo, Rong, Yu, Tao, Li, Dengfeng, Yang, Fan, Yang, Zuozhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632133/
https://www.ncbi.nlm.nih.gov/pubmed/36329391
http://dx.doi.org/10.1186/s12887-022-03702-7
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author Cai, Qianyun
Zhou, Zhongjie
Luo, Rong
Yu, Tao
Li, Dengfeng
Yang, Fan
Yang, Zuozhen
author_facet Cai, Qianyun
Zhou, Zhongjie
Luo, Rong
Yu, Tao
Li, Dengfeng
Yang, Fan
Yang, Zuozhen
author_sort Cai, Qianyun
collection PubMed
description BACKGROUND: As sequencing technology has advanced in recent years, a series of synapse-related gene variants have been reported to be associated with autism spectrum disorders (ASDs). The α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor is a subtype of the ionotropic glutamate receptor, whose number or composition changes can regulate the strength and plasticity of synapses. CASE PRESENTATION: Here, we report a de novo GRIA2 variant (NM_001083619.3: c.2308G > A, p.Ala770Thr) in a patient with obvious behavior regression and psychiatric symptoms. It encodes GluA2, which is the crucial subunit of the AMPA receptor, and the missense variation is predicted to result in instability of the protein structure. CONCLUSIONS: The association between GRIA2 variants and onset of ASD symptoms is rare, and our study expands the spectrum of phenotypic variations. For patients with an unexplained etiology of ASD accompanied by psychiatric symptoms, genetic causes should be considered, and a complete genetic evaluation should be performed. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12887-022-03702-7.
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spelling pubmed-96321332022-11-04 Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report Cai, Qianyun Zhou, Zhongjie Luo, Rong Yu, Tao Li, Dengfeng Yang, Fan Yang, Zuozhen BMC Pediatr Case Report BACKGROUND: As sequencing technology has advanced in recent years, a series of synapse-related gene variants have been reported to be associated with autism spectrum disorders (ASDs). The α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor is a subtype of the ionotropic glutamate receptor, whose number or composition changes can regulate the strength and plasticity of synapses. CASE PRESENTATION: Here, we report a de novo GRIA2 variant (NM_001083619.3: c.2308G > A, p.Ala770Thr) in a patient with obvious behavior regression and psychiatric symptoms. It encodes GluA2, which is the crucial subunit of the AMPA receptor, and the missense variation is predicted to result in instability of the protein structure. CONCLUSIONS: The association between GRIA2 variants and onset of ASD symptoms is rare, and our study expands the spectrum of phenotypic variations. For patients with an unexplained etiology of ASD accompanied by psychiatric symptoms, genetic causes should be considered, and a complete genetic evaluation should be performed. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12887-022-03702-7. BioMed Central 2022-11-03 /pmc/articles/PMC9632133/ /pubmed/36329391 http://dx.doi.org/10.1186/s12887-022-03702-7 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Cai, Qianyun
Zhou, Zhongjie
Luo, Rong
Yu, Tao
Li, Dengfeng
Yang, Fan
Yang, Zuozhen
Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report
title Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report
title_full Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report
title_fullStr Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report
title_full_unstemmed Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report
title_short Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report
title_sort novel gria2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632133/
https://www.ncbi.nlm.nih.gov/pubmed/36329391
http://dx.doi.org/10.1186/s12887-022-03702-7
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