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Mosaic CLTC pathogenic variant causing focal epilepsy with normal intelligence.

作者信息

Sveistrup Michelle A, Myers Kenneth A

机构信息

Faculty of Medicine, McGill University, Montreal, Quebec, Canada.

Child Health & Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.

出版信息

Epileptic Disord. 2024 Dec;26(6):875-878. doi: 10.1002/epd2.20270. Epub 2024 Sep 5.

DOI:10.1002/epd2.20270
PMID:39235893
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11651378/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5179/11651378/bb98a5e315c3/EPD2-26-875-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5179/11651378/bb98a5e315c3/EPD2-26-875-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5179/11651378/bb98a5e315c3/EPD2-26-875-g001.jpg

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Mosaic CLTC pathogenic variant causing focal epilepsy with normal intelligence.导致局灶性癫痫且智力正常的镶嵌性CLTC致病变异体。
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2
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.新生 CLTC 变异与从轻度到重度智力残疾、小头畸形、胼胝体发育不全和癫痫等可变表型相关。
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Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.各种基因中的体突变导致了一系列局灶性皮质发育不良。
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The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in .CLTC基因中反复出现的致病性Pro890Leu替代导致了突触传递的普遍缺陷。
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本文引用的文献

1
Ictal semiology of epileptic seizures with insulo-opercular genesis.岛盖起源的癫痫发作的发作期症状学。
J Neurol. 2022 Jun;269(6):3119-3128. doi: 10.1007/s00415-021-10911-0. Epub 2021 Nov 23.
2
Novel CLTC variants cause new brain and kidney phenotypes.新型CLTC变体导致新的脑和肾表型。
J Hum Genet. 2022 Jan;67(1):1-7. doi: 10.1038/s10038-021-00957-3. Epub 2021 Jul 7.
3
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
新生 CLTC 变异与从轻度到重度智力残疾、小头畸形、胼胝体发育不全和癫痫等可变表型相关。
Genet Med. 2020 Apr;22(4):797-802. doi: 10.1038/s41436-019-0703-y. Epub 2019 Nov 28.
4
Mechanisms of clathrin-mediated endocytosis.网格蛋白介导的内吞作用的机制。
Nat Rev Mol Cell Biol. 2018 May;19(5):313-326. doi: 10.1038/nrm.2017.132. Epub 2018 Feb 7.
5
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.发育性和癫痫性脑病中从头复发性突变的高发生率。
Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.
6
CLTC as a clinically novel gene associated with multiple malformations and developmental delay.CLTC作为一个与多种畸形和发育迟缓相关的临床新基因。
Am J Med Genet A. 2016 Apr;170A(4):958-66. doi: 10.1002/ajmg.a.37506. Epub 2016 Jan 29.
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
8
Clathrin is required for the function of the mitotic spindle.网格蛋白是有丝分裂纺锤体功能所必需的。
Nature. 2005 Apr 28;434(7037):1152-7. doi: 10.1038/nature03502.
9
Human clathrin heavy chain (CLTC): partial molecular cloning, expression, and mapping of the gene to human chromosome 17q11-qter.人网格蛋白重链（CLTC）：基因的部分分子克隆、表达及定位于人类染色体17q11-qter
Genomics. 1991 Sep;11(1):174-8. doi: 10.1016/0888-7543(91)90115-u.