Chinese Journal of Child Health Care ›› 2022, Vol. 30 ›› Issue (11): 1272-1276.DOI: 10.11852/zgetbjzz2022-0838
• Case Report • Previous Articles
Received:
2022-07-12
Revised:
2022-10-10
Online:
2022-11-10
Published:
2022-11-09
魏庄, 梁爱民, 马扬, 李世杰, 纪文静, 黄鸿眉
通讯作者:
黄鸿眉,E-mail:huanghongmay@aliyun.com.cn
作者简介:
魏庄(1974-),女,黑龙江人,本科学历,主要研究方向为儿童生长和发育。
CLC Number:
魏庄, 梁爱民, 马扬, 李世杰, 纪文静, 黄鸿眉. THOC2基因突变导致言语-认知发育障碍并文献复习[J]. 中国儿童保健杂志, 2022, 30(11): 1272-1276.
Add to citation manager EndNote|Ris|BibTeX
[1] Tărlungeanu DC, Novarino G. Genomics in neurodevelopmental disorders:An avenue to personalized medicine[J]. Exp Mol Med, 2018,50(8):1-7. [2] Heath CG, Viphakone N, Wilson SA. The role of TREX in gene expression and disease[J]. Biochem J, 2016,473(19):2911-2935. [3] Mattioli F, Isidor B, Abdul-Rahman O, et al. Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability[J]. Hum Mol Genet, 2019,28(6):952-960. [4] Woerner AC, Frottin F, Hornburg D, et al. Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA[J]. Science, 2016,351(6269):173-176. [5] Yuan X, Zhang T, Yao F, et al.The complex-dependent posttranscriptional control contributes to vascular smooth muscle cell fate decision[J]. Circ Res, 2018,123(5):538-549. [6] Uhlén M, Fagerberg L, Hallström BM, et al. Proteomics. Tissue-based map of the human proteome[J]. Science, 2015,347(6220):1260419. [7] Tamhankar V, Tamhankar P, Chaubal R, et al. Novel consensus splice site pathogenic variation in thoc2 gene leads to recurrent arthrogryposis multiplex congenita phenotype: A case report[J]. Cureus, 2021,13(11):e19682. [8] Kumar R, Corbett MA, van Bon BW, et al. THOC2 mutations implicate mRNA-Export pathway in X-linked intellectual disability[J]. Am J Hum Genet, 2015,97(2):302-310. [9] Di Gregorio E, Bianchi FT, Schiavi A, et al. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia[J]. J Med Genet, 2013,50(8):543-551. [10] Kumar R, Gardner A, Homan CC, et al. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery[J]. Hum Mutat, 2018,39(8):1126-1138. [11] Kumar R, Palmer E, Gardner AE, et al. Expanding clinical presentations due to variations in THOC2 mrna nuclear export factor[J]. Front Mol Neurosci, 2020,13:12. [12] Kubina J, Geldreich A, Gales JP, et al. Nuclear export of plant pararetrovirus mRNAs involves the TREX complex, two viral proteins and the highly structured 5' leader region[J]. Nucleic Acids Res, 2021,49(15):8900-8922. [13] Cai S, Bai Y, Wang H, et al. Knockdown of THOC1 reduces the proliferation of hepatocellular carcinoma and increases the sensitivity to cisplatin[J]. J Exp Clin Cancer Res, 2020,39(1):135. [14] Saran S, Tran DD, Ewald F, et al. Depletion of three combined THOC5 mRNA export protein target genes synergistically induces human hepatocellular carcinoma cell death[J].Oncogene, 2016,35(29):3872-3879. [15] Lemire G, Innes AM, Boycott KM. THOC6 Intellectual Disability Syndrome[M].//Adam MP, Ardinger HH, Pagon RA, et al.GeneReviews®. Seattle (WA): University of Washington, Seattle, August 13, 2020. [16] Niemi MEK, Martin HC, Rice DL, et al. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders[J]. Nature, 2018,562(7726):268-271. [17] Chi B, Wang Q, Wu G, et al. Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA[J]. Nucleic Acids Res, 2013,41(2):1294-1306. [18] Pereira G, Dória S. X-chromosome inactivation:Implications in human disease[J]. J Genet, 2021(100):63. |
[1] | TANG Yajun, LIU Xiumei. Research progress on dietary nutrition and intestinal flora in children with tic disorder [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1232-1235. |
[2] | LIN Duan, LIU Xiumei. Research progress on the role of histamine in the pathogenesis of tic disorder [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1236-1240. |
[3] | CHEN Yanhui, KE Zhongling. Psycho-behavioral intervention for tic disorder based on neurophysioloy [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1045-1049. |
[4] | LU Yanting, CHEN Liangliang, LIU Xiumei. Mediating role of premonitory urge on the impact of comorbidity with attention-deficit/hyperactivity disorder on tic severity in children with tic disorder [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1050-1054. |
[5] | GAN Kaiyan, HUANG Anqi, ZHANG Ziyi, GUAN Luyang, WANG Fei, KE Xiaoyan. Prospective study of the stability of early diagnosis of autism spectrum disorder with positive screening results of Modified Checklist for Autism in Toddlers [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1076-1079. |
[6] | YANG Fan, LI Qinghong, LI Yiming, YANG Shunbo, LI Wei, LYU Zhihai. Status of screen use and its association with core symptoms in children with autism spectrum disorder [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1080-1084. |
[7] | ZHANG Panpan, ZHAO Tingting, XIAO Xuwu. Correlation between intestinal flora and tic disorder [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1091-1096. |
[8] | QIU Jiaqi , ZHONG Xia, ZOU Shipu. Role of dopamine and its receptors in tic disorder in children [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1097-1100. |
[9] | XU Ying, SHI Haishui, ZHANG Huifeng, TIAN Xiaoyu. Role of GABAergic system in the pathogenesis and treatment of Tourette syndrome in children [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1101-1105. |
[10] | LI Zhonggui, WANG Haifei, HUANG Meilin, JING Jin. Cognitive impairments of children with tic disorder [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1106-1110. |
[11] | LI Shuai, HUANG Qijun, XIA Yu, LIU Zhenhuan. Meta-analysis of the correlation of prenatal, perinatal and environmental risk factors with childhood autism [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1122-1127. |
[12] | JIANG Yanlin, WANG Junhong, LI Jialin, ZHAI Rui, JIANG Xiulei. Construction of a risk prediction scoring system for tic disorders in Chinese children based on Meta-analysis and external validation [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1128-1134. |
[13] | ZHANG Liwen, QIN Xing, LI Juan, SONG Zixia, WU Weiwei. Efficacy of EEG biofeedback combined with methylphenidate hydrochloride in the treatment of childhood attention deficit hyperactivity disorder and its effect on cerebral blood flow and serum cortisol level [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1135-1139. |
[14] | DONG Chao, ZHANG Linlin, ZHONG Yunyu, LIU Yun, LIU Juan, WANG Peng, WANG Yufeng, YANG Binrang, WU Zhaomin, LI Ying. Multidimensional executive function deficits in children with attention deficit hyperactivity disorder assessed by Cambridge Neuropsychological Test Automated Battery [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1149-1154. |
[15] | WANG Yu, MA Xiaoping, YAO Rui, DU Tianju, LI Hua, LIU Li. Genetic etiology analysis of children with developmental delay and intellectual disabilities in Ningxia region [J]. Chinese Journal of Child Health Care, 2024, 32(9): 1008-1013. |
Viewed | ||||||
Full text |
|
|||||
Abstract |
|
|||||