Clinical utility gene card for: Cornelia de Lange syndrome.
作者信息
Ramos Feliciano J, Puisac Beatriz, Baquero-Montoya Carolina, Gil-Rodríguez Ma Concepción, Bueno Inés, Deardorff Matthew A, Hennekam Raoul C, Kaiser Frank J, Krantz Ian D, Musio Antonio, Selicorni Angelo, FitzPatrick David R, Pié Juan
机构信息
Clinical Genetics Unit, Service of Paediatrics, University Hospital 'Lozano Blesa' Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
出版信息
Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24.
Abstract
摘要
相似文献
1
Clinical utility gene card for: Cornelia de Lange syndrome.科妮莉亚·德·朗格综合征临床实用基因卡片
Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24.
2
Chromatinopathies: A focus on Cornelia de Lange syndrome.染色质病：以 Cornelia de Lange 综合征为重点。
Clin Genet. 2020 Jan;97(1):3-11. doi: 10.1111/cge.13674. Epub 2019 Nov 24.
3
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.两例携带NIPBL新突变的科妮莉亚·德·朗格综合征的产前/新生儿病理学
Genet Med. 2007 Mar;9(3):188-94. doi: 10.1097/gim.0b013e31803183dd.
4
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.两名具有轻度 Cornelia de Lange 综合征样表现的患者中的两种新型 RAD21 突变，并报道首例家族性病例。
Gene. 2014 Mar 10;537(2):279-84. doi: 10.1016/j.gene.2013.12.045. Epub 2013 Dec 27.
5
A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.一名患有科妮莉亚·德朗热综合征的马来男孩：临床及分子学发现
Singapore Med J. 2006 Aug;47(8):724-7.
6
A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype.一个表现出科妮莉亚·德·朗格综合征表型的新发t(X;8)(p11.2;q24.3)。
Genet Couns. 2005;16(1):27-30.
7
A New Mutation Identified by Whole Exome Sequencing in a Cornelia de Lange Syndrome Newborn.通过全外显子组测序在一名Cornelia de Lange综合征新生儿中鉴定出一种新突变。
Chin Med J (Engl). 2018 Oct 5;131(19):2384-2385. doi: 10.4103/0366-6999.241793.
8
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.科妮莉亚·德·朗格综合征中NIPBL的38种新型种系和体细胞突变系列
Clin Genet. 2016 May;89(5):584-9. doi: 10.1111/cge.12720. Epub 2016 Feb 3.
9
Chromosomes in the Cornelia de Lange syndrome.科妮莉亚·德·朗格综合征中的染色体。
Hum Genet. 1981;59(4):271-6. doi: 10.1007/BF00295457.
10
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.非间变性肾母细胞瘤与科妮莉亚·德·朗格综合征的罕见关联：病例报告
BMC Cancer. 2016 Jun 13;16:365. doi: 10.1186/s12885-016-2402-2.
引用本文的文献
1
A Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia.一例典型的5型科妮莉亚·德朗热综合征（CdLS5），其HDAC8基因存在新发的p.Gly210Arg错义变异，伴有全身性肌张力障碍的新表型。
Cureus. 2024 May 22;16(5):e60838. doi: 10.7759/cureus.60838. eCollection 2024 May.
2
An interactive atlas of three-dimensional syndromic facial morphology.三维综合征面形态学互动图谱
Am J Hum Genet. 2024 Jan 4;111(1):39-47. doi: 10.1016/j.ajhg.2023.11.011.
3
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.斑点追踪超声心动图显示 Cornelia de Lange 综合征患者存在亚临床心肌功能障碍。
Int J Cardiovasc Imaging. 2022 Nov;38(11):2291-2302. doi: 10.1007/s10554-022-02612-0. Epub 2022 May 19.
4
Cornelia de Lange syndrome and cancer: An open question.科妮莉亚·德·朗格综合征与癌症：一个悬而未决的问题。
Am J Med Genet A. 2023 Jan;191(1):292-295. doi: 10.1002/ajmg.a.62992. Epub 2022 Oct 17.
5
Case report: A novel case of parental mosaicism in gene causes inherited Cornelia de Lange syndrome.病例报告：基因中的一种新型亲代嵌合体导致遗传性科妮莉亚·德·朗格综合征。
Front Genet. 2022 Sep 28;13:993064. doi: 10.3389/fgene.2022.993064. eCollection 2022.
6
A Therapeutic Perspective of HDAC8 in Different Diseases: An Overview of Selective Inhibitors.HDAC8 在不同疾病中的治疗视角：选择性抑制剂概述。
Int J Mol Sci. 2022 Sep 2;23(17):10014. doi: 10.3390/ijms231710014.
7
Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.转录调控相关人类疾病中与疾病相关的 c-MYC 下调。
Hum Mol Genet. 2022 May 19;31(10):1599-1609. doi: 10.1093/hmg/ddab348.
8
High rate of autonomic neuropathy in Cornelia de Lange Syndrome.Cornelia de Lange 综合征中自主神经病变的高发生率。
Orphanet J Rare Dis. 2021 Oct 30;16(1):458. doi: 10.1186/s13023-021-02082-y.
9
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.康氏综合征合子后镶嵌性的临床意义及血液中 NIPBL 变异体的纯化选择。
Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z.
10
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome.Cornelia de Lange 综合征中 NIPBL/Scc2 的破坏引起黏连蛋白在全基因组范围内重新分布，并对转录组产生影响。
Nat Commun. 2021 Jul 27;12(1):4551. doi: 10.1038/s41467-021-24808-z.
本文引用的文献
1
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.科妮莉亚·德·朗格综合征中的隐匿性突变：桑格测序在分子诊断中的局限性
Hum Mutat. 2015 Jan;36(1):26-9. doi: 10.1002/humu.22685. Epub 2014 Dec 2.
2
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.科妮莉亚·德·朗热综合征（CdLS）及CdLS样表型中的基因异质性，以及观察到的和预测的嵌合水平。
J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.
3
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.功能丧失性HDAC8突变导致一系列具有科妮莉亚·德·朗格综合征样特征、眼距过宽、囟门大及X连锁遗传的表型。
Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.
4
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.两名具有轻度 Cornelia de Lange 综合征样表现的患者中的两种新型 RAD21 突变，并报道首例家族性病例。
Gene. 2014 Mar 10;537(2):279-84. doi: 10.1016/j.gene.2013.12.045. Epub 2013 Dec 27.
5
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.SMC1A 基因突变的 Cornelia de Lange 综合征新发病例和复发病例有助于明确突变谱和表型谱。
Am J Med Genet A. 2013 Nov;161A(11):2909-19. doi: 10.1002/ajmg.a.36252. Epub 2013 Oct 2.
6
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Cornelia de Lange 综合征的突变谱与基因型-表型相关性。
Hum Mutat. 2013 Dec;34(12):1589-96. doi: 10.1002/humu.22430. Epub 2013 Sep 16.
7
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.Coffin-Siris 综合征和 BAF 复合物：63 例患者的基因型-表型研究。
Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30.
8
Germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures.科妮莉亚·德朗热综合征中的生殖系嵌合现象：困境与风险数据
Am J Med Genet A. 2013 Jul;161A(7):1825-6. doi: 10.1002/ajmg.a.35988. Epub 2013 May 21.
9
High rate of mosaicism in individuals with Cornelia de Lange syndrome.高镶嵌率在 Cornelia de Lange 综合征个体中。
J Med Genet. 2013 May;50(5):339-44. doi: 10.1136/jmedgenet-2012-101477. Epub 2013 Mar 15.
10
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.X 外显子组测序在一个具有 X 连锁智力残疾、躯干肥胖、男性乳房发育、性腺功能减退和异常面容的大型家系中鉴定出一个 HDAC8 变体。
J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921.
Zotero 插件