De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.

IF 1.7 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Coastal Management Pub Date : 2022-05-09 DOI:10.1101/mcs.a006172
Maeson S Latsko, Daniel C Koboldt, Samuel J Franklin, Scott E Hickey, Rachel K Williamson, Shannon Garner, Adam P Ostendorf, Kristy Lee, Peter White, Richard K Wilson
{"title":"De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.","authors":"Maeson S Latsko, Daniel C Koboldt, Samuel J Franklin, Scott E Hickey, Rachel K Williamson, Shannon Garner, Adam P Ostendorf, Kristy Lee, Peter White, Richard K Wilson","doi":"10.1101/mcs.a006172","DOIUrl":null,"url":null,"abstract":"<p><p>De novo variants are increasingly recognized as a common cause of early infantile epileptic encephalopathies. We present a 4-year-old male with epileptic encephalopathy characterized by seizures, autism spectrum disorder, and global developmental delay. Whole genome sequencing of the proband and his unaffected parents revealed a novel de novo missense variant in GRIA2 (c.1589A>T; p.Lys530Met; ENST00000264426.14). Variants in the GRIA2 gene were recently reported to cause an autosomal dominant neurodevelopmental disorder with language impairments and behavioral abnormalities (OMIM; MIM #618917), a condition characterized by intellectual disability and developmental delay in which seizures are a common feature. The de novo variant identified in our patient maps to the edge of a key ligand binding domain of the AMPA receptor and has not been previously reported in gnomAD or other public databases, making it novel. Our findings provided a long-sought diagnosis for this patient and support the link between GRIA2 and a dominant neurodevelopmental disorder.</p>","PeriodicalId":50995,"journal":{"name":"Coastal Management","volume":"45 1","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2022-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235849/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Coastal Management","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1101/mcs.a006172","RegionNum":4,"RegionCategory":"环境科学与生态学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ENVIRONMENTAL SCIENCES","Score":null,"Total":0}
引用次数: 0

Abstract

De novo variants are increasingly recognized as a common cause of early infantile epileptic encephalopathies. We present a 4-year-old male with epileptic encephalopathy characterized by seizures, autism spectrum disorder, and global developmental delay. Whole genome sequencing of the proband and his unaffected parents revealed a novel de novo missense variant in GRIA2 (c.1589A>T; p.Lys530Met; ENST00000264426.14). Variants in the GRIA2 gene were recently reported to cause an autosomal dominant neurodevelopmental disorder with language impairments and behavioral abnormalities (OMIM; MIM #618917), a condition characterized by intellectual disability and developmental delay in which seizures are a common feature. The de novo variant identified in our patient maps to the edge of a key ligand binding domain of the AMPA receptor and has not been previously reported in gnomAD or other public databases, making it novel. Our findings provided a long-sought diagnosis for this patient and support the link between GRIA2 and a dominant neurodevelopmental disorder.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
一名患有全面发育迟缓、自闭症谱系障碍和癫痫性脑病的患者体内的 GRIA2 发生了新的错义突变。
新发变异越来越被认为是早期婴儿癫痫性脑病的常见病因。我们报告了一名 4 岁男性癫痫性脑病患者,其特征为癫痫发作、自闭症谱系障碍和全面发育迟缓。对该患者及其未受影响的父母进行的全基因组测序发现,GRIA2存在一个新的从头错义变异(c.1589A>T; p.Lys530Met; ENST00000264426.14)。最近有报道称,GRIA2基因的变异可导致一种常染色体显性神经发育障碍,并伴有语言障碍和行为异常(OMIM; MIM #618917),这种疾病以智力障碍和发育迟缓为特征,癫痫发作是其常见特征。在我们的患者身上发现的新变异映射到了 AMPA 受体的一个关键配体结合域的边缘,以前在 gnomAD 或其他公共数据库中都没有报道过,因此具有新颖性。我们的研究结果为这名患者提供了一个寻找已久的诊断结果,并支持了 GRIA2 与显性神经发育障碍之间的联系。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Coastal Management
Coastal Management 环境科学-环境科学
CiteScore
6.00
自引率
0.00%
发文量
24
审稿时长
>36 weeks
期刊介绍: Coastal Management is an international peer-reviewed, applied research journal dedicated to exploring the technical, applied ecological, legal, political, social, and policy issues relating to the use of coastal and ocean resources and environments on a global scale. The journal presents timely information on management tools and techniques as well as recent findings from research and analysis that bear directly on management and policy. Findings must be grounded in the current peer reviewed literature and relevant studies. Articles must contain a clear and relevant management component. Preference is given to studies of interest to an international readership, but case studies are accepted if conclusions are derived from acceptable evaluative methods, reference to comparable cases, and related to peer reviewed studies.
期刊最新文献
Transboundary Environmental Harm and the Increasing Risk of Oil Spills and Marine Debris in the Semi-Enclosed Arafura and Timor Seas Region A Call for a Cultural Shift in Oceanography ATSEA: A Regional Collaboration to Address Transboundary Threats to Ecosystems for Human Well-Being in the Arafura and Timor Seas Toward Sustainable Fishing Practices in Indonesia: Defining a Catch Quota Allocation for Saddletail Snapper (Lutjanus Malabaricus) in the Arafura Sea Tougher Evidence-Based Policy Does Matter: Deterring Illegal Fishing in the Arafura and Timor Seas
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1