Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020

2021 ◽  
Author(s):  
Chris Oliver ◽  
Laura Groves ◽  
Blake D. Hansen ◽  
Masoud Salehi ◽  
Shaydah Kheradmand ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Cohesin Complex ◽  
Cornelia De Lange

Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018

2019 ◽  
Vol 179 (6) ◽  
pp. 1080-1090
Author(s):  
Antonie D. Kline ◽  
Ian D. Krantz ◽  
Masashige Bando ◽  
Katsuhiko Shirahige ◽  
Stephenson Chea ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Cohesin Complex ◽  
Educational Symposium ◽  
Cornelia De Lange

scholarly journals Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016

2017 ◽  
Vol 173 (5) ◽  
pp. 1172-1185 ◽  
Author(s):  
Antonie D. Kline ◽  
Ian D. Krantz ◽  
Matthew A. Deardorff ◽  
Katsuhiko Shirahige ◽  
Dale Dorsett ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Cohesin Complex ◽  
Educational Symposium ◽  
Cornelia De Lange

scholarly journals Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

2007 ◽  
Vol 80 (3) ◽  
pp. 485-494 ◽  
Author(s):  
Matthew A. Deardorff ◽  
Maninder Kaur ◽  
Dinah Yaeger ◽  
Abhinav Rampuria ◽  
Sergey Korolev ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cornelia De Lange Syndrome ◽  
Cohesin Complex ◽  
Cornelia De Lange

scholarly journals BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome

2021 ◽  
Vol 8 ◽  
Author(s):  
Pablo García-Gutiérrez ◽  
Mario García-Domínguez
Keyword(s):  
Gene Expression ◽  
Transcriptional Regulation ◽  
Molecular Mechanisms ◽  
Critical Role ◽  
Complex Function ◽  
Clinical Manifestations ◽  
Cornelia De Lange Syndrome ◽  
Cohesin Complex ◽  
Developmental Defects ◽  
Cornelia De Lange

Cornelia de Lange Syndrome (CdLS) is a human developmental syndrome with complex multisystem phenotypic features. It has been traditionally considered a cohesinopathy together with other phenotypically related diseases because of their association with mutations in subunits of the cohesin complex. Despite some overlap, the clinical manifestations of cohesinopathies vary considerably and, although their precise molecular mechanisms are not well defined yet, the potential pathomechanisms underlying these diverse developmental defects have been theoretically linked to alterations of the cohesin complex function. The cohesin complex plays a critical role in sister chromatid cohesion, but this function is not affected in CdLS. In the last decades, a non-cohesion-related function of this complex on transcriptional regulation has been well established and CdLS pathoetiology has been recently associated to gene expression deregulation. Up to 70% of CdLS cases are linked to mutations in the cohesin-loading factor NIPBL, which has been shown to play a prominent function on chromatin architecture and transcriptional regulation. Therefore, it has been suggested that CdLS can be considered a transcriptomopathy. Actually, CdLS-like phenotypes have been associated to mutations in chromatin-associated proteins, as KMT2A, AFF4, EP300, TAF6, SETD5, SMARCB1, MAU2, ZMYND11, MED13L, PHIP, ARID1B, NAA10, BRD4 or ANKRD11, most of which have no known direct association with cohesin. In the case of BRD4, a critical highly investigated transcriptional coregulator, an interaction with NIPBL has been recently revealed, providing evidence on their cooperation in transcriptional regulation of developmentally important genes. This new finding reinforces the notion of an altered gene expression program during development as the major etiological basis for CdLS. In this review, we intend to integrate the recent available evidence on the molecular mechanisms underlying the clinical manifestations of CdLS, highlighting data that favors a transcription-centered framework, which support the idea that CdLS could be conceptualized as a transcriptomopathy.

scholarly journals Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation

2018 ◽  
Vol 28 (1) ◽  
pp. 64-73 ◽  
Author(s):  
Daniele Bottai ◽  
Marco Spreafico ◽  
Anna Pistocchi ◽  
Grazia Fazio ◽  
Raffaella Adami ◽  
...  
Keyword(s):  
Neural Development ◽  
Cornelia De Lange Syndrome ◽  
Cohesin Complex ◽  
Histone Deacetylase 8 ◽  
Chemical Inhibition ◽  
Cornelia De Lange ◽  
Structural Maintenance Of Chromosomes

Abstract Cornelia de Lange syndrome (CdLS), which is reported to affect ∼1 in 10 000 to 30 000 newborns, is a multisystem organ developmental disorder with relatively mild to severe effects. Among others, intellectual disability represents an important feature of this condition. CdLS can result from mutations in at least five genes: nipped-B-like protein, structural maintenance of chromosomes 1A, structural maintenance of chromosomes 3, RAD21 cohesin complex component and histone deacetylase 8 (HDAC8). It is believed that mutations in these genes cause CdLS by impairing the function of the cohesin complex (to which all the aforementioned genes contribute to the structure or function), disrupting gene regulation during critical stages of early development. Since intellectual disorder might result from alterations in neural development, in this work, we studied the role of Hdac8 gene in mouse neural stem cells (NSCs) and in vertebrate (Danio rerio) brain development by knockdown and chemical inhibition experiments. Underlying features of Hdac8 deficiency is an increased cell death in the developing neural tissues, either in mouse NSCs or in zebrafish embryos.

scholarly journals Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium

2015 ◽  
Vol 167 (6) ◽  
pp. 1179-1192 ◽  
Author(s):  
Antonie D. Kline ◽  
Anne L. Calof ◽  
Arthur D. Lander ◽  
Jennifer L. Gerton ◽  
Ian D. Krantz ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Cohesin Complex ◽  
Educational Symposium ◽  
Cornelia De Lange

scholarly journals i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome

2015 ◽  
Vol 2015 (mar24 2) ◽  
pp. bcr2014209124-bcr2014209124 ◽  
Author(s):  
A. Galderisi ◽  
G. De Bernardo ◽  
E. Lorenzon ◽  
D. Trevisanuto
Keyword(s):  
Low Birthweight ◽  
Cornelia De Lange Syndrome ◽  
Very Low Birthweight ◽  
Cornelia De Lange ◽  
Very Low Birthweight Infant

scholarly journals A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 142
Author(s):  
Anca Maria Panaitescu ◽  
Simona Duta ◽  
Nicolae Gica ◽  
Radu Botezatu ◽  
Florina Nedelea ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Facial Features ◽  
Genetic Condition ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Limb Reduction ◽  
Ultrasound Findings ◽  
Prenatal Management ◽  
Cornelia De Lange

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.

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