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大量受神经发育障碍影响的意大利患者的基因改变

Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.

作者信息

Ranieri Annaluisa, La Monica Ilaria, Di Iorio Maria Rosaria, Lombardo Barbara, Pastore Lucio

机构信息

CEINGE-Biotecnologie Avanzate Franco Salvatore, via G. Salvatore 486, 80145 Naples, Italy.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, via Sergio Pansini 5, 80131 Naples, Italy.

出版信息

Genes (Basel). 2024 Mar 28;15(4):427. doi: 10.3390/genes15040427.

DOI:10.3390/genes15040427
PMID:38674362
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11050211/
Abstract

Neurodevelopmental disorders are a group of complex multifactorial disorders characterized by cognitive impairment, communication deficits, abnormal behaviour, and/or motor skills resulting from abnormal neural development. Copy number variants (CNVs) are genetic alterations often associated with neurodevelopmental disorders. We evaluated the diagnostic efficacy of the array-comparative genomic hybridization (a-CGH) method and its relevance as a routine diagnostic test in patients with neurodevelopmental disorders for the identification of the molecular alterations underlying or contributing to the clinical manifestations. In the present study, we analysed 1800 subjects with neurodevelopmental disorders using a CGH microarray. We identified 208 (7%) pathogenetic CNVs, 2202 (78%) variants of uncertain significance (VOUS), and 504 (18%) benign CNVs in the 1800 patients analysed. Some alterations contain genes potentially related to neurodevelopmental disorders including , , , , , , , , , , , , , and . The identification of interesting significant genes related to neurological disorders with a-CGH is therefore an essential step in the diagnostic procedure, allowing a better understanding of both the pathophysiology of these disorders and the mechanisms underlying their clinical manifestations.

摘要

神经发育障碍是一组复杂的多因素疾病，其特征是由于神经发育异常导致认知障碍、沟通缺陷、行为异常和/或运动技能异常。拷贝数变异（CNV）是常与神经发育障碍相关的基因改变。我们评估了阵列比较基因组杂交（a-CGH）方法的诊断效能及其作为神经发育障碍患者常规诊断测试的相关性，以识别潜在的或导致临床表现的分子改变。在本研究中，我们使用CGH微阵列分析了1800名神经发育障碍患者。在分析的1800名患者中，我们鉴定出208个（7%）致病性CNV、2202个（78%）意义未明的变异（VOUS）和504个（18%）良性CNV。一些改变包含可能与神经发育障碍相关的基因，包括 、 、 、 、 、 、 、 、 、 、 、 、 和 。因此，用a-CGH鉴定与神经疾病相关的有趣的重要基因是诊断过程中的关键一步，有助于更好地理解这些疾病的病理生理学及其临床表现的潜在机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67c/11050211/fb709fa5148e/genes-15-00427-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67c/11050211/a23378ec4dad/genes-15-00427-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67c/11050211/fb709fa5148e/genes-15-00427-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67c/11050211/a23378ec4dad/genes-15-00427-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d67c/11050211/fb709fa5148e/genes-15-00427-g002.jpg

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本文引用的文献

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Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.揭开神经紊乱遗传图谱之谜：深入了解发病机制、变异鉴定技术及治疗方法。
Int J Mol Sci. 2024 Feb 15;25(4):2320. doi: 10.3390/ijms25042320.
2
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.外显子组测序提高了儿科不明原因神经发育障碍的分子诊断水平。
Orphanet J Rare Dis. 2024 Feb 6;19(1):41. doi: 10.1186/s13023-024-03056-6.
3
Neurodevelopmental disorders: 2021 update.
拓扑异构酶3β中的一种自闭症谱系障碍突变通过破坏锌指结构域内的金属结合导致共价mRNA中间体积累。
bioRxiv. 2025 Apr 11:2025.04.11.647616. doi: 10.1101/2025.04.11.647616.
4
A Paradigmatic Case of Genetic Overlap Between Neurodevelopment Disorders and Schizophrenia Aligning with the Neurodevelopmental Continuum Hypothesis.神经发育障碍与精神分裂症之间基因重叠的一个典型案例，符合神经发育连续体假说。
Int J Mol Sci. 2025 Apr 23;26(9):3970. doi: 10.3390/ijms26093970.
5
Genomic analysis of mobility measures on 5-month-old gilts associated with structural soundness.对5月龄后备母猪与结构健全性相关的运动指标进行基因组分析。
J Anim Sci. 2025 Jan 4;103. doi: 10.1093/jas/skaf001.
神经发育障碍：2021年更新
Free Neuropathol. 2021 Mar 24;2:6. doi: 10.17879/freeneuropathology-2021-3268. eCollection 2021 Jan.
4
KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease.KIF1A相关神经系统疾病：一种罕见突变疾病概述
Pharmaceuticals (Basel). 2023 Jan 19;16(2):147. doi: 10.3390/ph16020147.
5
Comparing synaptic proteomes across five mouse models for autism reveals converging molecular similarities including deficits in oxidative phosphorylation and Rho GTPase signaling.比较五种自闭症小鼠模型的突触蛋白质组，发现了趋同的分子相似性，包括氧化磷酸化和Rho GTPase信号传导缺陷。
Front Aging Neurosci. 2023 May 15;15:1152562. doi: 10.3389/fnagi.2023.1152562. eCollection 2023.
6
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.临床解读不确定意义的 CNV 周期性重评估的实用性：一项 8 年回顾性研究。
Genome Med. 2023 May 23;15(1):39. doi: 10.1186/s13073-023-01191-6.
7
A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants.神经发育和神经精神相关拷贝数变异的认知影响综述。
Transl Psychiatry. 2023 Apr 8;13(1):116. doi: 10.1038/s41398-023-02421-6.
8
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Gene. 2023 Jun 20;870:147399. doi: 10.1016/j.gene.2023.147399. Epub 2023 Apr 3.
9
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Front Pediatr. 2023 Mar 1;11:1133789. doi: 10.3389/fped.2023.1133789. eCollection 2023.
10
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).神经发育障碍的遗传和代谢研究：加拿大医学遗传学家学院（CCMG）的立场声明。
J Med Genet. 2023 Jun;60(6):523-532. doi: 10.1136/jmg-2022-108962. Epub 2023 Feb 23.