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Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations.对两例具有新型 SET 突变的无关联患者进行全外显子组测序和转录组分析。
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Proteomic Analysis of Brain Region and Sex-Specific Synaptic Protein Expression in the Adult Mouse Brain.大脑区域蛋白质组学分析和成年小鼠大脑中性别特异性突触蛋白表达。
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本文引用的文献

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Downregulating ANP32A rescues synapse and memory loss via chromatin remodeling in Alzheimer model.在阿尔茨海默病模型中，下调ANP32A可通过染色质重塑挽救突触和记忆丧失。
Mol Neurodegener. 2017 May 4;12(1):34. doi: 10.1186/s13024-017-0178-8.
2
Prevalence and architecture of de novo mutations in developmental disorders.发育障碍中新生突变的患病率及结构
Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.
3
Acetylation-regulated interaction between p53 and SET reveals a widespread regulatory mode.p53与SET之间的乙酰化调节相互作用揭示了一种广泛的调节模式。
Nature. 2016 Oct 6;538(7623):118-122. doi: 10.1038/nature19759. Epub 2016 Sep 14.
4
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
5
The expression and distributions of ANP32A in the developing brain.ANP32A在发育中的大脑中的表达与分布。
Biomed Res Int. 2015;2015:207347. doi: 10.1155/2015/207347. Epub 2015 Mar 19.
6
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.DDD研究中发育障碍的基因诊断：全基因组研究数据的可扩展分析
Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17.
7
De novo mutations in moderate or severe intellectual disability.中度或重度智力残疾中的新生突变。
PLoS Genet. 2014 Oct 30;10(10):e1004772. doi: 10.1371/journal.pgen.1004772. eCollection 2014 Oct.
8
DeNovoGear: de novo indel and point mutation discovery and phasing.DeNovoGear：从头缺失和点突变发现及相位分析。
Nat Methods. 2013 Oct;10(10):985-7. doi: 10.1038/nmeth.2611. Epub 2013 Aug 25.
9
The Deciphering Developmental Disorders (DDD) study.发育障碍解读（DDD）研究
Dev Med Child Neurol. 2011 Aug;53(8):702-3. doi: 10.1111/j.1469-8749.2011.04032.x. Epub 2011 Jun 17.
10
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.SET 核癌基因与微管蛋白相关蛋白 1（MCPH1）结合并调节染色体凝聚。
J Biol Chem. 2011 Jun 17;286(24):21393-400. doi: 10.1074/jbc.M110.208793. Epub 2011 Apr 22.

与发育迟缓及智力障碍相关的新生移码变异。

SET de novo frameshift variants associated with developmental delay and intellectual disabilities.

机构信息

Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK.

Bristol Regional Genetics Service, University Hospitals Bristol, Bristol, UK.

出版信息

Eur J Hum Genet. 2018 Sep;26(9):1306-1311. doi: 10.1038/s41431-018-0199-y. Epub 2018 Jun 15.

DOI:10.1038/s41431-018-0199-y
PMID:29907757
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6117329/
Abstract

Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the SET gene have not previously been recognised to be associated with human developmental disorders. Here we report detailed phenotypic information and propose that SET is a new Intellectual Disability/Developmental Delay (ID/DD) gene.

摘要

通过发育障碍解析（DDD）研究进行的三例全外显子组测序发现了 3 名个体存在 Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) 基因的新生移码变异。SET 基因的变异以前没有被认为与人类发育障碍有关。在这里，我们报告了详细的表型信息，并提出 SET 是一个新的智力残疾/发育迟缓（ID/DD）基因。