• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

病例报告：一名患有神经发育障碍个体中CRMP1的一种变体。

Case report: A variant of CRMP1 in an individual with a neurodevelopmental disorder.

作者信息

Liu Juan, Wang Qi, Chen Jia

机构信息

Department of Pediatrics, Mianyang Central Hospital, Mianyang, Sichuan, China.

Chengdu Medical College, Chengdu, Sichuan, China.

出版信息

Front Neurosci. 2024 Dec 20;18:1490731. doi: 10.3389/fnins.2024.1490731. eCollection 2024.

DOI:10.3389/fnins.2024.1490731
PMID:39758889
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11695366/
Abstract

BACKGROUND

CRMP1 is a key protein involved in brain development.

METHODS

We performed genetic testing through whole-exome sequencing (WES) in an individual with a neurodevelopmental disorder.

RESULTS

We identified a heterozygous NM_001014809.3:c.1755del (p.Lys586fs) variant in the affected individual. This mutation was submitted to ClinVar (SCV005196589).

CONCLUSION

Currently, the gene has no clear disease phenotype association in the Online Mendelian Inheritance in Man (OMIM) database. Our report may provide evidence for an association between the gene and neurodevelopmental disorders (NDDs).

摘要

背景

CRMP1是一种参与大脑发育的关键蛋白。

方法

我们对一名患有神经发育障碍的个体进行了全外显子组测序（WES）基因检测。

结果

我们在受影响个体中鉴定出一个杂合的NM_001014809.3:c.1755del（p.Lys586fs）变异。该突变已提交至ClinVar（SCV005196589）。

结论

目前，该基因在《人类孟德尔遗传在线》（OMIM）数据库中尚无明确的疾病表型关联。我们的报告可能为该基因与神经发育障碍（NDDs）之间的关联提供证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1696/11695366/b4965997bd84/fnins-18-1490731-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1696/11695366/a29aab3ddeba/fnins-18-1490731-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1696/11695366/b4965997bd84/fnins-18-1490731-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1696/11695366/a29aab3ddeba/fnins-18-1490731-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1696/11695366/b4965997bd84/fnins-18-1490731-g002.jpg

相似文献

1
Case report: A variant of CRMP1 in an individual with a neurodevelopmental disorder.病例报告：一名患有神经发育障碍个体中CRMP1的一种变体。
Front Neurosci. 2024 Dec 20;18:1490731. doi: 10.3389/fnins.2024.1490731. eCollection 2024.
2
Monoallelic gene variants cause neurodevelopmental disorder.单等位基因突变导致神经发育障碍。
Elife. 2022 Dec 13;11:e80793. doi: 10.7554/eLife.80793.
3
Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay.176 名西班牙神经发育障碍儿童的全外显子组测序和基于面板的分析：重点是自闭症谱系障碍和/或智力残疾/全面发育迟缓。
Genes (Basel). 2024 Oct 11;15(10):1310. doi: 10.3390/genes15101310.
4
Autosomal Dominant Intellectual Development Disorder-6 (MRD6) Without Seizures Linked to a De Novo Mutation in the grin2b Gene Revealed by Exome Sequencing: A Case Report of a Moroccan Child.通过外显子组测序揭示的与grin2b基因新生突变相关的无癫痫发作的常染色体显性智力发育障碍6型（MRD6）：一名摩洛哥儿童的病例报告
Cureus. 2023 Oct 4;15(10):e46456. doi: 10.7759/cureus.46456. eCollection 2023 Oct.
5
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.对3244名患者样本进行神经发育迟缓分子和遗传基础的稳健而全面的研究，该研究通过拉丁人群的外显子组分析进行评估。
Diagnostics (Basel). 2025 Feb 5;15(3):376. doi: 10.3390/diagnostics15030376.
6
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.神经发育障碍中的新生变异——来自三级医疗中心的经验
Clin Genet. 2021 Jul;100(1):14-28. doi: 10.1111/cge.13946. Epub 2021 Mar 1.
7
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.HNRNP 基因罕见的有害突变可导致多种神经发育障碍。
Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6.
8
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.采用基于三亲的全外显子组测序对中国队列中不明原因神经发育迟缓及神经发育合并症患儿进行表型和遗传学分析。
Orphanet J Rare Dis. 2024 May 19;19(1):205. doi: 10.1186/s13023-024-03214-w.
9
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of in a Quad Family Affected by Autism Spectrum Disorder.自闭症遗传学中的树突棘：全外显子组测序在一个受自闭症谱系障碍影响的四口之家中鉴定出从头变异。
Children (Basel). 2022 Dec 30;10(1):80. doi: 10.3390/children10010080.
10
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.外显子组测序揭示综合征性自闭症伊朗单纯近亲家系中的神经发育基因。
BMC Med Genomics. 2024 Aug 5;17(1):196. doi: 10.1186/s12920-024-01969-6.

本文引用的文献

1
Establishing an objective clinical spectrum, genotype-phenotype correlations, and as a modifier in the Ellis-van Creveld syndrome: The first systematic review of and -associated conditions.建立客观的临床谱、基因型-表型相关性，以及作为埃利斯-范克里维尔德综合征的一个修饰因素：对[相关基因]和[相关疾病]的首次系统综述
Genet Med Open. 2023 Mar 13;1(1):100781. doi: 10.1016/j.gimo.2023.100781. eCollection 2023.
2
Semaphorin 3A influences neuronal processes that are altered in patients with autism spectrum disorder: Potential diagnostic and therapeutic implications.信号素3A影响自闭症谱系障碍患者中发生改变的神经元过程：潜在的诊断和治疗意义。
Neurosci Biobehav Rev. 2023 Oct;153:105338. doi: 10.1016/j.neubiorev.2023.105338. Epub 2023 Jul 29.
3
Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders.二氢嘧啶酶样蛋白家族在突触生理学和神经发育障碍中的作用。
Front Neurosci. 2023 Apr 17;17:1154446. doi: 10.3389/fnins.2023.1154446. eCollection 2023.
4
[Recent research on neurodevelopmental disorders in children].[儿童神经发育障碍的最新研究]
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Jan 15;25(1):91-97. doi: 10.7499/j.issn.1008-8830.2208171.
5
Monoallelic gene variants cause neurodevelopmental disorder.单等位基因突变导致神经发育障碍。
Elife. 2022 Dec 13;11:e80793. doi: 10.7554/eLife.80793.
6
Protein Misfolding and Aggregation in the Brain: Common Pathogenetic Pathways in Neurodegenerative and Mental Disorders.脑内蛋白质错误折叠和聚集：神经退行性和精神障碍的常见发病机制途径。
Int J Mol Sci. 2022 Nov 21;23(22):14498. doi: 10.3390/ijms232214498.
7
Pilot Study of Maternal Autoantibody-Related Autism.母亲自身抗体相关自闭症的初步研究。
J Dev Behav Pediatr. 2022;43(8):465-471. doi: 10.1097/DBP.0000000000001100. Epub 2022 Jun 1.
8
Inhibition of Crmp1 Phosphorylation at Ser522 Ameliorates Motor Function and Neuronal Pathology in Amyotrophic Lateral Sclerosis Model Mice.抑制 Crmp1 在丝氨酸 522 位的磷酸化可改善肌萎缩侧索硬化症模型小鼠的运动功能和神经元病理。
eNeuro. 2022 May 23;9(3). doi: 10.1523/ENEURO.0133-22.2022. Print 2022 May-Jun.
9
Neurodevelopmental disorders and incontinence in children and adolescents: Attention-deficit/hyperactivity disorder, autism spectrum disorder, and intellectual disability-A consensus document of the International Children's Continence Society.儿童和青少年的神经发育障碍与尿失禁：注意力缺陷多动障碍、自闭症谱系障碍和智力残疾——国际儿童尿控协会共识文件
Neurourol Urodyn. 2022 Jan;41(1):102-114. doi: 10.1002/nau.24798. Epub 2021 Sep 29.
10
Phosphorylation of Collapsin Response Mediator Protein 1 (CRMP1) at Tyrosine 504 residue regulates Semaphorin 3A-induced cortical dendritic growth.磷酸化轴突导向因子 Collapsin 反应介质蛋白 1（CRMP1）在酪氨酸 504 残基调控 Semaphorin 3A 诱导的皮质树突生长。
J Neurochem. 2021 May;157(4):1207-1221. doi: 10.1111/jnc.15304. Epub 2021 Jan 31.