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Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

作者信息

Valayannopoulos Vassili, Michot Caroline, Rodriguez Diana, Hubert Laurence, Saillour Yoann, Labrune Philippe, de Laveaucoupet Jocelyne, Brunelle Francis, Amiel Jeanne, Lyonnet Stanislas, Enza-Razavi Ferechté, Attié-Bitach Tania, Lacombe Didier, Bahi-Buisson Nadia, Desguerre Isabelle, Chelly Jamel, Burglen Lydie, Boddaert Nathalie, de Lonlay Pascale

出版信息

Brain. 2012 Jan;135(Pt 1):e199; author reply e200. doi: 10.1093/brain/awr108. Epub 2011 May 23.

DOI:10.1093/brain/awr108
PMID:21609947
Abstract
摘要

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1
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.TSEN和CASK基因的突变在2型和4型脑桥小脑发育不全中很常见。
Brain. 2012 Jan;135(Pt 1):e199; author reply e200. doi: 10.1093/brain/awr108. Epub 2011 May 23.
2
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.桥脑小脑发育不良的临床、神经影像学和遗传学发现。
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Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.tRNA 剪接内切酶亚基 54（tsen54）基因的损伤导致脑桥小脑发育不良斑马鱼模型的神经发育异常和幼虫死亡。
Hum Mol Genet. 2011 Apr 15;20(8):1574-84. doi: 10.1093/hmg/ddr034. Epub 2011 Jan 27.
4
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.2型脑桥小脑发育不全中TSEN54的新型突变。
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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.桥脑小脑发育不全的分类、诊断和潜在机制。
Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50.
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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.转运RNA剪接内切核酸酶突变导致脑桥小脑发育不全。
Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.
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Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.同胞兄妹患 RARS2 突变，伴硬脑膜下积液，无脑干小脑蚓部发育不良出现较晚。
Arch Dis Child. 2013 Dec;98(12):1004-7. doi: 10.1136/archdischild-2013-304308. Epub 2013 Sep 18.
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Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.脑桥小脑发育不全：分类与遗传学综述，以及对几个已知对小脑发育重要的基因的排除。
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RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.RARS2基因突变导致早发性癫痫性脑病，无桥脑小脑发育不全。
Eur J Paediatr Neurol. 2016 May;20(3):412-7. doi: 10.1016/j.ejpn.2016.02.012. Epub 2016 Mar 2.
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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.RARS2基因启动子区的一种新突变导致两名同胞患桥脑小脑发育不全。
J Hum Genet. 2015 Jul;60(7):363-9. doi: 10.1038/jhg.2015.31. Epub 2015 Mar 26.

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Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.CASK 蛋白剪接依赖性结构和功能可塑性的遗传证据。
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Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery.
果蝇 CASK 调节大脑大小和神经元形态发生，为适合药物发现的产后小头畸形提供了遗传模型。
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Diverse Clinical Phenotypes of -Related Disorders and Multiple Functional Domains of CASK Protein.- 相关疾病的多种临床表型和 CASK 蛋白的多个功能域。
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A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.CASK 基因新发变异导致智力残疾和脑发育不良：病例报告及文献复习。
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Cells. 2022 Mar 28;11(7):1131. doi: 10.3390/cells11071131.
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Functional analysis of CASK transcript variants expressed in human brain.人脑中转录变体 CASK 的功能分析。
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A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.tRNA 剪接内切酶亚基 54 的纯合变异导致伊朗一个近亲结婚家族的桥脑小脑发育不良。
Mol Genet Genomic Med. 2020 Oct;8(10):e1413. doi: 10.1002/mgg3.1413. Epub 2020 Jul 22.
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A novel mutation identified in siblings exhibiting developmental disorders with/without microcephaly.在患有或不患有小头畸形的发育障碍同胞中鉴定出一种新的突变。
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