自闭症中的罕见遗传变异：开始见林又见树。
Rare inherited variation in autism: beginning to see the forest and a few trees.
机构信息
Program in Neurogenetics, Department of Neurology and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
出版信息
Neuron. 2013 Jan 23;77(2):209-11. doi: 10.1016/j.neuron.2013.01.010.
Abstract
In this issue of Neuron, two papers (Lim et al., 2013; Yu et al., 2013) use whole-exome sequencing (WES) to elucidate the contribution of inherited variation to the risk for autism by leveraging the increased penetrance of homozygous and compound heterozygous rare variants in autosomes and hemizygous rare variants in the X chromosome of males. Together, they expand our knowledge about the genetic architecture of ASD, verify previously identified genes, and identify novel mutations that will guide the discovery of the critical biological processes disrupted in autism.
摘要
在本期《神经元》中，两篇论文（Lim 等人，2013；Yu 等人，2013）利用全外显子组测序（WES），通过利用常染色体上纯合子和复合杂合子罕见变异以及男性 X 染色体上半合子罕见变异的更高外显率，阐明遗传变异对自闭症风险的贡献。它们共同扩展了我们对 ASD 遗传结构的认识，验证了先前确定的基因，并确定了新的突变，这将指导自闭症中受干扰的关键生物学过程的发现。
相似文献
1
Rare inherited variation in autism: beginning to see the forest and a few trees.自闭症中的罕见遗传变异：开始见林又见树。
Neuron. 2013 Jan 23;77(2):209-11. doi: 10.1016/j.neuron.2013.01.010.
2
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.利用血液血清素作为内表型来鉴定自闭症相关的新生和罕见变异。
Mol Autism. 2017 Mar 21;8:14. doi: 10.1186/s13229-017-0130-3. eCollection 2017.
3
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.自闭症谱系障碍中隐性遗传基因与从头变异基因的功能关系。
Mol Autism. 2020 Oct 6;11(1):75. doi: 10.1186/s13229-020-00382-x.
4
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.自闭症谱系障碍男性患者全外显子测序与转录组分析的综合研究
Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015.
5
Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.感觉加工功能障碍儿童的新生突变和遗传性罕见单核苷酸变异负担
BMC Med Genomics. 2018 May 25;11(1):50. doi: 10.1186/s12920-018-0362-x.
6
Novel Compound Heterozygous Mutations in the Gene in Two Siblings With Autism and Intellectual Disability.两名患有自闭症和智力障碍的兄弟姐妹中该基因的新型复合杂合突变。
Front Genet. 2019 Feb 11;10:61. doi: 10.3389/fgene.2019.00061. eCollection 2019.
7
Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies.自闭症谱系障碍的遗传结构：来自大规模基因组研究的启示。
Neurosci Biobehav Rev. 2021 Sep;128:244-257. doi: 10.1016/j.neubiorev.2021.06.028. Epub 2021 Jun 21.
8
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.在患有自闭症谱系障碍的不同临床儿童群体中进行包括靶向基因panel在内的基因检测：研究结果与启示。
Mol Genet Genomic Med. 2018 Mar;6(2):171-185. doi: 10.1002/mgg3.354. Epub 2017 Dec 21.
9
Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology.自闭症谱系障碍的最新进展：全外显子组测序技术的应用
Psychiatry Investig. 2016 May;13(3):255-64. doi: 10.4306/pi.2016.13.3.255. Epub 2016 May 18.
10
GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE - Session Introduction.全基因组关联图谱与罕见等位基因：从群体基因组学到个性化医学——会议介绍
Pac Symp Biocomput. 2011:74-5. doi: 10.1142/9789814335058_0008.
引用本文的文献
1
Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.基于结构的新型方法检测自闭症谱系障碍相关的致病性三联体变异。
Mol Autism. 2024 Apr 3;15(1):12. doi: 10.1186/s13229-024-00590-9.
2
Diversity and Classification of Genetic Variations in Autism Spectrum Disorder.自闭症谱系障碍中遗传变异的多样性和分类。
Int J Mol Sci. 2023 Nov 26;24(23):16768. doi: 10.3390/ijms242316768.
3
knockout mice show autistic-like behaviors and aberrant synapse formation.基因敲除小鼠表现出自闭症样行为和异常的突触形成。
iScience. 2022 Jun 10;25(7):104573. doi: 10.1016/j.isci.2022.104573. eCollection 2022 Jul 15.
4
Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk.遗传咨询作为预防干预措施：朝向跨代自闭症风险的个体化特异性。
J Neurodev Disord. 2021 Sep 16;13(1):39. doi: 10.1186/s11689-021-09389-8.
5
The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders.自闭症与埃勒斯-丹洛斯综合征/关节过度活动谱系障碍之间的关系。
J Pers Med. 2020 Dec 1;10(4):260. doi: 10.3390/jpm10040260.
6
Single-Cell RNA Sequencing Reveals Cell-Type-Specific Mechanisms of Neurological Diseases.
Neurosci Bull. 2020 Jul;36(7):821-824. doi: 10.1007/s12264-020-00496-5. Epub 2020 Apr 15.
7
High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies.具有突触结合蛋白样蛋白 4（SYTL4）和跨膜蛋白 187（TMEM187）基因突变的高功能自闭症：SYTL4-蛋白质建模、蛋白质-蛋白质相互作用、表达谱和 microRNA 研究。
Int J Mol Sci. 2019 Jul 9;20(13):3358. doi: 10.3390/ijms20133358.
8
Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis.自闭症谱系障碍（ASD）中的新发突变（DNMs）：通路与网络分析
Front Genet. 2018 Sep 21;9:406. doi: 10.3389/fgene.2018.00406. eCollection 2018.
9
Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family.动态支架用于神经元信号传递：TANC 蛋白家族的计算分析。
Sci Rep. 2017 Jul 28;7(1):6829. doi: 10.1038/s41598-017-05748-5.
10
Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes.与自闭症谱系障碍和精神分裂症表型相关的MBD5单核苷酸变异研究。
Nagoya J Med Sci. 2016 Dec;78(4):465-474. doi: 10.18999/nagjms.78.4.465.
本文引用的文献
1
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.自闭症的全基因组测序确定了新生种系突变的热点。
Cell. 2012 Dec 21;151(7):1431-42. doi: 10.1016/j.cell.2012.11.019.
2
Common genetic variants, acting additively, are a major source of risk for autism.常见的遗传变异，以累加的方式作用，是自闭症的一个主要风险因素。
Mol Autism. 2012 Oct 15;3(1):9. doi: 10.1186/2040-2392-3-9.
3
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.BCKD-激酶基因突变可导致一种具有潜在治疗性的伴癫痫的自闭症。
Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6.
4
Autism genetics: searching for specificity and convergence.自闭症遗传学：寻找特异性与趋同性。
Genome Biol. 2012 Jul 31;13(7):247. doi: 10.1186/gb4034.
5
Individual common variants exert weak effects on the risk for autism spectrum disorders.个体常见变异对自闭症谱系障碍风险的影响较弱。
Hum Mol Genet. 2012 Nov 1;21(21):4781-92. doi: 10.1093/hmg/dds301. Epub 2012 Jul 26.
6
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.全基因组转录组谱分析揭示了自闭症谱系障碍中罕见的新生和反复性 CNV 的功能影响。
Am J Hum Genet. 2012 Jul 13;91(1):38-55. doi: 10.1016/j.ajhg.2012.05.011. Epub 2012 Jun 21.
7
De novo gene disruptions in children on the autistic spectrum.自闭症谱系儿童中的新生基因缺失。
Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009.
8
Patterns and rates of exonic de novo mutations in autism spectrum disorders.自闭症谱系障碍中基因外显子新生突变的模式和速率。
Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011.
9
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.散发性自闭症外显子组揭示了从头突变的高度相互关联的蛋白质网络。
Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.
10
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.全外显子组测序揭示的新生突变与自闭症强烈相关。
Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.
Zotero 插件