AUTHOR=Zhou Bingbo , Zhang Chuan , Zheng Lei , Wang Zhiqiang , Chen Xue , Feng Xuan , Zhang Qinghua , Hao Shengju , Wei Liwan , Gu Weiyue , Hui Ling 

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

JOURNAL=Frontiers in Genetics

VOLUME=12

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.794766

DOI=10.3389/fgene.2021.794766

ISSN=1664-8021

ABSTRACT=<p><bold>Introduction:</bold> 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 (<italic>GRIA2</italic>) 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 <italic>GRIA2</italic> gene have been discovered.</p><p><bold>Methods:</bold> A GRIA2 variation was detected in a patient by whole-exome sequencing, and the site was validated by Sanger sequencing from the family.</p><p><bold>Results:</bold> 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 <italic>de novo</italic> missense mutation, c.1934T &gt; G (p.Leu645Arg), in the <italic>GRIA2</italic> gene (NM_001083619.1), which has never been reported before.</p><p><bold>Conclusion:</bold> Our case shows the potential diagnostic role of WES in NEDLIB, expands the <italic>GRIA2</italic> 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.</p>