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Identification and Characterization of a Novel CASK c.2546T>C (p.V849A) Mutation in a Male Infant with Pontocerebellar Hypoplasia.

作者信息

Rama Devi Akella Radha, Lingappa Lokesh, Naushad Shaik Mohammad

机构信息

Department of Genetics, Rainbow Children's Hospital, Banjara Hills Road No: 2, Hyderabad, Andhra Pradesh, India.

Department of Biochemical Genetics and Pharmacogenomics, Sandor Speciality Diagnostics Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, Andhra Pradesh, India.

出版信息

Ann Indian Acad Neurol. 2019 Oct-Dec;22(4):523-524. doi: 10.4103/aian.AIAN_2_19. Epub 2019 Oct 25.

DOI:10.4103/aian.AIAN_2_19
PMID:31736593
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6839305/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5f2/6839305/3646feebd852/AIAN-22-523-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5f2/6839305/3646feebd852/AIAN-22-523-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5f2/6839305/3646feebd852/AIAN-22-523-g001.jpg

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Identification and Characterization of a Novel CASK c.2546T>C (p.V849A) Mutation in a Male Infant with Pontocerebellar Hypoplasia.一名患有脑桥小脑发育不全的男婴中新型CASK基因c.2546T>C（p.V849A）突变的鉴定与特征分析
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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).对41例患有智力障碍、小头畸形并伴有脑桥和小脑发育不全（MICPCH）的患者进行CASK突变及其他遗传病因的综合调查。
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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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本文引用的文献

1
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).对41例患有智力障碍、小头畸形并伴有脑桥和小脑发育不全（MICPCH）的患者进行CASK突变及其他遗传病因的综合调查。
PLoS One. 2017 Aug 7;12(8):e0181791. doi: 10.1371/journal.pone.0181791. eCollection 2017.
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
Phenotypic and molecular insights into CASK-related disorders in males.
携带 CASK Arg27Ter 突变的男性患者存活至青春期。
Mol Genet Genomic Med. 2020 Oct;8(10):e1426. doi: 10.1002/mgg3.1426. Epub 2020 Jul 21.
男性中与CASK相关疾病的表型和分子见解。
Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3.
4
The contribution of de novo coding mutations to autism spectrum disorder.新生编码突变对自闭症谱系障碍的影响。
Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.
5
X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth.X 连锁智力障碍基因 CASK 与 Bcl11A/CTIP1 相互作用，调节轴突分支和生长。
J Neurosci Res. 2010 Aug 15;88(11):2364-73. doi: 10.1002/jnr.22407.
6
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.CASK基因的突变会导致一种X连锁的脑畸形表型，伴有小头畸形以及脑干和小脑发育不全。
Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194.
7
The scaffolding protein CASK mediates the interaction between rabphilin3a and beta-neurexins.支架蛋白CASK介导rabphilin3a与β-神经突触素之间的相互作用。
FEBS Lett. 2001 May 25;497(2-3):99-102. doi: 10.1016/s0014-5793(01)02450-4.