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智力发育障碍常染色体显性7型（MRD7）中新型DYRK1A突变（c.524del）的发现：一项综合病例分析

Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis.

作者信息

Whitaker Fiona, Serrano Alvaro

机构信息

East Tennessee State University, Johnson City, TN, USA.

出版信息

Case Rep Genet. 2024 Jul 30;2024:2926555. doi: 10.1155/2024/2926555. eCollection 2024.

DOI:10.1155/2024/2926555
PMID:39109359
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11303064/
Abstract

Dual-specificity tyrosine kinase 1A (DYRK1A) is a member of the CMGC family that is linked to a multitude of neuronal development pathways. Both overexpression and insufficiency of this gene are associated with many recognizable disorders, including Down syndrome and DYRK1A-related intellectual disability syndrome which is characterized by distinct physical features with microcephaly and global developmental delay. We report a case of DYRK1A-related intellectual disability syndrome caused by a novel mutation.

摘要

双特异性酪氨酸激酶1A（DYRK1A）是CMGC家族的成员，与多种神经元发育途径相关。该基因的过表达和功能不足均与许多可识别的疾病有关，包括唐氏综合征和DYRK1A相关的智力残疾综合征，其特征为小头畸形和全面发育迟缓等明显的身体特征。我们报告了一例由新突变引起的DYRK1A相关智力残疾综合征病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece8/11303064/d463ad3c9294/CRIG2024-2926555.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece8/11303064/9ddcb2258db6/CRIG2024-2926555.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece8/11303064/a49c389dc8ec/CRIG2024-2926555.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece8/11303064/429c0519dc57/CRIG2024-2926555.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece8/11303064/d463ad3c9294/CRIG2024-2926555.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece8/11303064/9ddcb2258db6/CRIG2024-2926555.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece8/11303064/a49c389dc8ec/CRIG2024-2926555.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece8/11303064/429c0519dc57/CRIG2024-2926555.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ece8/11303064/d463ad3c9294/CRIG2024-2926555.004.jpg

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本文引用的文献

1
The Omnipresence of DYRK1A in Human Diseases.DYRK1A 在人类疾病中的普遍存在。
Int J Mol Sci. 2022 Aug 19;23(16):9355. doi: 10.3390/ijms23169355.
2
A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay.一个新的从头突变的 DYRK1A 导致 DYRK1A 功能完全丧失和发育迟缓。
Sci Rep. 2020 Jun 17;10(1):9849. doi: 10.1038/s41598-020-66750-y.
3
Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome.脑皮质回路发育障碍导致 DYRK1A 杂合不足综合征的神经学改变。
Neurobiol Dis. 2019 Jul;127:210-222. doi: 10.1016/j.nbd.2019.02.022. Epub 2019 Mar 1.
4
DYRK1A and cognition: A lifelong relationship.DYRK1A 与认知：一生的关联。
Pharmacol Ther. 2019 Feb;194:199-221. doi: 10.1016/j.pharmthera.2018.09.010. Epub 2018 Sep 28.
5
Clinical phenotype of ASD-associated haploinsufficiency.与自闭症谱系障碍相关的单倍剂量不足的临床表型。
Mol Autism. 2017 Oct 5;8:54. doi: 10.1186/s13229-017-0173-5. eCollection 2017.
6
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.DYRK1A基因单倍体不足会导致一种新的可识别综合征，其特征为小头畸形、智力残疾、语言障碍和独特面容。
Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6.
7
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.DYRK1A 基因是一种综合征性智力障碍的致病基因，其特征为严重的小头畸形和癫痫。
J Med Genet. 2012 Dec;49(12):731-6. doi: 10.1136/jmedgenet-2012-101251. Epub 2012 Oct 25.
8
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.DECIPHER：利用Ensembl资源构建的人类染色体失衡与表型数据库。
Am J Hum Genet. 2009 Apr;84(4):524-33. doi: 10.1016/j.ajhg.2009.03.010. Epub 2009 Apr 2.
9
DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome.双重特异性酪氨酸磷酸化调节激酶1A（DYRK1A）与REST/NRSF- SWI/SNF染色质重塑复合体相互作用，从而使参与唐氏综合征神经元表型特征的基因簇失调。
Hum Mol Genet. 2009 Apr 15;18(8):1405-14. doi: 10.1093/hmg/ddp047. Epub 2009 Feb 12.