Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment

Introduction: Neurodevelopmental disorders with language impairment and behavioral abnormalities (NEDLIB) are a disease caused by heterozygous variants in the glutamate ionotropic receptor AMPA type subunit 2 (GRIA2) gene, which manifest as impaired mental development or developmental delay, behavio...

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Autores principales:	Bingbo Zhou, Chuan Zhang, Lei Zheng, Zhiqiang Wang, Xue Chen, Xuan Feng, Qinghua Zhang, Shengju Hao, Liwan Wei, Weiyue Gu, Ling Hui
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	GRIA2 gene case report neurodevelopmental disorder language impairment behavioral abnormalities Genetics QH426-470
Acceso en línea:	https://doaj.org/article/afb0017971ea4aa8a75e9fa9af8fc0b1
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spelling	oai:doaj.org-article:afb0017971ea4aa8a75e9fa9af8fc0b12021-12-01T01:19:20ZCase Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment1664-802110.3389/fgene.2021.794766https://doaj.org/article/afb0017971ea4aa8a75e9fa9af8fc0b12021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.794766/fullhttps://doaj.org/toc/1664-8021Introduction: Neurodevelopmental disorders with language impairment and behavioral abnormalities (NEDLIB) are a disease caused by heterozygous variants in the glutamate ionotropic receptor AMPA type subunit 2 (GRIA2) gene, which manifest as impaired mental development or developmental delay, behavioral abnormalities including autistic characteristics, and language disorders. Currently, only a few mutations in the GRIA2 gene have been discovered.Methods: A GRIA2 variation was detected in a patient by whole-exome sequencing, and the site was validated by Sanger sequencing from the family.Results: We report a Chinese case of NEDLIB in a girl with language impairment and developmental delay through whole-exome sequencing (WES). Genetic analysis showed that there was a de novo missense mutation, c.1934T > G (p.Leu645Arg), in the GRIA2 gene (NM_001083619.1), which has never been reported before.Conclusion: Our case shows the potential diagnostic role of WES in NEDLIB, expands the GRIA2 gene mutation spectrum, and further deepens the understanding of NEDLIB. Deepening the study of the genetic and clinical heterogeneity, treatment, and prognosis of the disease is still our future challenge and focus.Bingbo ZhouChuan ZhangLei ZhengZhiqiang WangXue ChenXuan FengQinghua ZhangShengju HaoLiwan WeiWeiyue GuLing HuiFrontiers Media S.A.articleGRIA2 genecase reportneurodevelopmental disorderlanguage impairmentbehavioral abnormalitiesGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	GRIA2 gene case report neurodevelopmental disorder language impairment behavioral abnormalities Genetics QH426-470
spellingShingle	GRIA2 gene case report neurodevelopmental disorder language impairment behavioral abnormalities Genetics QH426-470 Bingbo Zhou Chuan Zhang Lei Zheng Zhiqiang Wang Xue Chen Xuan Feng Qinghua Zhang Shengju Hao Liwan Wei Weiyue Gu Ling Hui Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment
description	Introduction: Neurodevelopmental disorders with language impairment and behavioral abnormalities (NEDLIB) are a disease caused by heterozygous variants in the glutamate ionotropic receptor AMPA type subunit 2 (GRIA2) gene, which manifest as impaired mental development or developmental delay, behavioral abnormalities including autistic characteristics, and language disorders. Currently, only a few mutations in the GRIA2 gene have been discovered.Methods: A GRIA2 variation was detected in a patient by whole-exome sequencing, and the site was validated by Sanger sequencing from the family.Results: We report a Chinese case of NEDLIB in a girl with language impairment and developmental delay through whole-exome sequencing (WES). Genetic analysis showed that there was a de novo missense mutation, c.1934T > G (p.Leu645Arg), in the GRIA2 gene (NM_001083619.1), which has never been reported before.Conclusion: Our case shows the potential diagnostic role of WES in NEDLIB, expands the GRIA2 gene mutation spectrum, and further deepens the understanding of NEDLIB. Deepening the study of the genetic and clinical heterogeneity, treatment, and prognosis of the disease is still our future challenge and focus.
format	article
author	Bingbo Zhou Chuan Zhang Lei Zheng Zhiqiang Wang Xue Chen Xuan Feng Qinghua Zhang Shengju Hao Liwan Wei Weiyue Gu Ling Hui
author_facet	Bingbo Zhou Chuan Zhang Lei Zheng Zhiqiang Wang Xue Chen Xuan Feng Qinghua Zhang Shengju Hao Liwan Wei Weiyue Gu Ling Hui
author_sort	Bingbo Zhou
title	Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment
title_short	Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment
title_full	Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment
title_fullStr	Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment
title_full_unstemmed	Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment
title_sort	case report: a novel de novo missense mutation of the gria2 gene in a chinese case of neurodevelopmental disorder with language impairment
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/afb0017971ea4aa8a75e9fa9af8fc0b1
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Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment

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