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.
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。
相似文献
1
Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis.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
Case Rep Genet. 2024 Jul 30;2024:2926555. doi: 10.1155/2024/2926555. eCollection 2024.
2
Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7.全外显子组测序在一名患有常染色体显性遗传智力发育障碍7型的患者中鉴定出一种新型DYRK1A变体。
Cureus. 2023 Jan 5;15(1):e33379. doi: 10.7759/cureus.33379. eCollection 2023 Jan.
3
Identification of two novel and one rare mutation in and prenatal diagnoses in three Chinese families with intellectual Disability-7.三个智力残疾-7型中国家系中两个新突变和一个罕见突变的鉴定及产前诊断
Front Genet. 2023 Dec 20;14:1290949. doi: 10.3389/fgene.2023.1290949. eCollection 2023.
4
A Mutation in Causes Syndromic Intellectual Disability: A Chinese Case Report.一个导致综合征性智力障碍的突变：一例中国病例报告
Front Genet. 2019 Nov 19;10:1194. doi: 10.3389/fgene.2019.01194. eCollection 2019.
5
Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.与一种伴有智力缺陷和自闭症综合征形式相关的DYRK1A错义变异的功能特征分析
Biol Open. 2018 Apr 26;7(4):bio032862. doi: 10.1242/bio.032862.
6
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.2例患有综合征性智力障碍的个体中新型DYRK1A突变的病例报告及文献综述
BMC Med Genet. 2016 Feb 27;17:15. doi: 10.1186/s12881-016-0276-4.
7
Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line.从一名携带 DYRK1A 突变（c.1730T>A）和基因校正同基因 iPSC 系的全球发育迟缓患者中诱导产生多能干细胞系。
Stem Cell Res. 2021 May;53:102305. doi: 10.1016/j.scr.2021.102305. Epub 2021 Mar 20.
8
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.另外10个新病例进一步明确了由DYRK1A基因突变导致的综合征型智力障碍表型。
Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29.
9
Case report: A novel deletion mutation of is associated with intellectual developmental disorder, autosomal dominant 7.病例报告：一种新的缺失突变与常染色体显性遗传7型智力发育障碍相关。
Front Neurosci. 2023 May 19;17:1174925. doi: 10.3389/fnins.2023.1174925. eCollection 2023.
10
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.两名综合征性智力障碍患者携带 DYRK1A 致病性变异，文献复习
Mol Genet Genomic Med. 2020 Dec;8(12):e1544. doi: 10.1002/mgg3.1544. Epub 2020 Nov 7.
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.
Zotero 插件