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Germline de novo variants in CSNK2B in Chinese patients with epilepsy

CSNK2B, which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. Among the 816 prob...

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Autores principales: Li, Jinliang, Gao, Kai, Cai, Shuying, Liu, Yin, Wang, Yuzhen, Huang, Shaoping, Zha, Jian, Hu, Wenjing, Yu, Shujie, Yang, Zhixian, Xie, Han, Yan, Huifang, Wang, Jingmin, Wu, Ye, Jiang, Yuwu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884442/
https://www.ncbi.nlm.nih.gov/pubmed/31784560
http://dx.doi.org/10.1038/s41598-019-53484-9
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author Li, Jinliang
Gao, Kai
Cai, Shuying
Liu, Yin
Wang, Yuzhen
Huang, Shaoping
Zha, Jian
Hu, Wenjing
Yu, Shujie
Yang, Zhixian
Xie, Han
Yan, Huifang
Wang, Jingmin
Wu, Ye
Jiang, Yuwu
author_facet Li, Jinliang
Gao, Kai
Cai, Shuying
Liu, Yin
Wang, Yuzhen
Huang, Shaoping
Zha, Jian
Hu, Wenjing
Yu, Shujie
Yang, Zhixian
Xie, Han
Yan, Huifang
Wang, Jingmin
Wu, Ye
Jiang, Yuwu
author_sort Li, Jinliang
collection PubMed
description CSNK2B, which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. Among the 816 probands suspected hereditary epilepsy whose initial report of trio-based whole exome sequencing (WES) were negative, 10 de novo pathogenic or likely pathogenic variants of CSNK2B in nine probands were identified after reanalysis of their raw Trio-WES data. Six of the nine epileptic patients had ID/DD. The age of seizure onset of these nine patients with CSNK2B variants ranged from 2–12 months. Eight patients had age of seizure onset of less than 6 months. The epilepsy of most probands (8/9) was generalized tonic-clonic seizure and clustered (6/9). Most patients had normal electroencephalogram (5/9) and brain magnetic resonance image (7/9) results. Most patients (7/9) had easy-to-control seizures. Levetiracetam was the most commonly used drug in seizure-free patients (5/7). The variants detected in five patients (5/9, 55.6%) were located in the zinc-binding domain. In summary, our research provided evidence that variants in CSNK2B are associated with epilepsy with or without ID/DD. CSNK2B-related epilepsy is relatively easy to be controlled. The zinc-binding domain appears to be the hotspot region for mutation.
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spelling pubmed-68844422019-12-06 Germline de novo variants in CSNK2B in Chinese patients with epilepsy Li, Jinliang Gao, Kai Cai, Shuying Liu, Yin Wang, Yuzhen Huang, Shaoping Zha, Jian Hu, Wenjing Yu, Shujie Yang, Zhixian Xie, Han Yan, Huifang Wang, Jingmin Wu, Ye Jiang, Yuwu Sci Rep Article CSNK2B, which encodes the beta subunit of casein kinase II (CK2), plays an important role in neuron morphology and synaptic transmission. Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. Among the 816 probands suspected hereditary epilepsy whose initial report of trio-based whole exome sequencing (WES) were negative, 10 de novo pathogenic or likely pathogenic variants of CSNK2B in nine probands were identified after reanalysis of their raw Trio-WES data. Six of the nine epileptic patients had ID/DD. The age of seizure onset of these nine patients with CSNK2B variants ranged from 2–12 months. Eight patients had age of seizure onset of less than 6 months. The epilepsy of most probands (8/9) was generalized tonic-clonic seizure and clustered (6/9). Most patients had normal electroencephalogram (5/9) and brain magnetic resonance image (7/9) results. Most patients (7/9) had easy-to-control seizures. Levetiracetam was the most commonly used drug in seizure-free patients (5/7). The variants detected in five patients (5/9, 55.6%) were located in the zinc-binding domain. In summary, our research provided evidence that variants in CSNK2B are associated with epilepsy with or without ID/DD. CSNK2B-related epilepsy is relatively easy to be controlled. The zinc-binding domain appears to be the hotspot region for mutation. Nature Publishing Group UK 2019-11-29 /pmc/articles/PMC6884442/ /pubmed/31784560 http://dx.doi.org/10.1038/s41598-019-53484-9 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Li, Jinliang
Gao, Kai
Cai, Shuying
Liu, Yin
Wang, Yuzhen
Huang, Shaoping
Zha, Jian
Hu, Wenjing
Yu, Shujie
Yang, Zhixian
Xie, Han
Yan, Huifang
Wang, Jingmin
Wu, Ye
Jiang, Yuwu
Germline de novo variants in CSNK2B in Chinese patients with epilepsy
title Germline de novo variants in CSNK2B in Chinese patients with epilepsy
title_full Germline de novo variants in CSNK2B in Chinese patients with epilepsy
title_fullStr Germline de novo variants in CSNK2B in Chinese patients with epilepsy
title_full_unstemmed Germline de novo variants in CSNK2B in Chinese patients with epilepsy
title_short Germline de novo variants in CSNK2B in Chinese patients with epilepsy
title_sort germline de novo variants in csnk2b in chinese patients with epilepsy
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884442/
https://www.ncbi.nlm.nih.gov/pubmed/31784560
http://dx.doi.org/10.1038/s41598-019-53484-9
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