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

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

Cornelia De Lange Syndrome in Iraq

2020 ◽  
Vol 2 (02) ◽  
pp. 01-04
Author(s):  
Aamir Mosawi
Keyword(s):  
Mental Retardation ◽  
Male Patient ◽  
Growth Retardation ◽  
Cornelia De Lange Syndrome ◽  
Facial Dysmorphism ◽  
Upper Lip ◽  
Nasal Bridge ◽  
Short Nose ◽  
Convergent Squint ◽  
Cornelia De Lange

Background: Cornelia de Lange syndrome is a rare syndrome of highly variable phenotype making a spectrum ranging from classic syndrome with many cardinal features to mild condition few cardinal features. Typically patients with classic syndrome had growth and mental retardation and distinctive facial dysmorphism including thick (bushy) and / or long eyebrows commonly with synophrys, short nose with depressed or concave nasal bridge and/or upturned nasal tip , long or smooth or indistinct philtrum, thin upper lip vermilion and/or downturned corners of mouth, and low set ears. The diagnosis of the syndrome is clinical. Ocular abnormalities that can be associated with Cornelia de Lang syndrome squint, nystagmus, refractive errors, and ptosis. Materials and methods: The occurrence of Cornelia de Lange syndrome has not been reported or well-documented. The first four Iraqi patients (Three boys and one girl) with Cornelia de Lange syndrome are described. The relevant literatures were reviewed with aim of determining the early documentation of the syndrome in the medical literatures. Results: All the patients were sporadic cases and had growth retardation, severe mental retardation with significant developmental delay, thick eye brows with some degree of synophrys, short nose with depressed or concave nasal bridge, and low set ears. All the patients had normal karyotype. One male patient had all of the classical features including long smooth and indistinct philtrum, thin upper lip vermilion, and downturned corners of mouth. The second male patient had a concave nasal bridge that becomes more obvious during crying, nystagmus and bilateral convergent squint. The third boy had milder dysmorphic features. The fourth patient was a girl who was the second of a twin. She had severe growth retardation and was hypotonic with poor head control. She also had bilateral convergent squint, refractive error, and reduction in visual acuity. Conclusion: The first four Iraqi patients with Cornelia de Lang syndrome are reported.

scholarly journals Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Jay J. Desai ◽  
Sreelata B. Nair ◽  
S. Pappachan
Keyword(s):  
Mental Retardation ◽  
Clinical Features ◽  
The Body ◽  
Cornelia De Lange Syndrome ◽  
Unknown Etiology ◽  
Multiple Systems ◽  
South Indian ◽  
Indian Origin ◽  
Unknown Significance ◽  
Cornelia De Lange

Abstract Background Cornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown etiology with its incidence varying from 1:10,000 to 1:50,000 live births in different population groups without any known racial predilections. Main clinical features of this syndrome consist of distinctive dysmorphic facial appearance, growth retardation, developmental delay, mental retardation, hirsutism, and skeletal formation anomaly. Case presentation This case presents a variation of unknown significance in the NIPBL gene-exon 39, chr5:37048649T>A c.6635T>A (p.Val2212Glu) with clinical phenotype of Cornelia de Lange syndrome. Our patient belonged to South Indian origin with clinical features of synophrys, micrognathia, long smooth philtrum, and clinodactyly with bilateral simian crease. Conclusion Cornelia de Lange syndrome is a rare but well-characterized disorder, in which multiple systems of the body are affected. It is important that the treating physician ensures coordination of the diversiform aspects of care in both childhood and adulthood. Proper and timely diagnosis using next generation sequencing helps in management and possibility of prenatal diagnosis.

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 Cornelia de Lange syndrome in children

2016 ◽  
pp. 102-107
Author(s):  
T. E. Bubnevich
Keyword(s):  
Mental Retardation ◽  
Upper Limb ◽  
Growth Retardation ◽  
Postnatal Growth ◽  
Cornelia De Lange Syndrome ◽  
Facial Dysmorphism ◽  
Malformation Syndrome ◽  
Postnatal Growth Retardation ◽  
Live Births ◽  
Cornelia De Lange

Cornelia de Lange syndrome is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, thin lips, «carp» mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there are clinical options with milder phenotypes in this syndrome. The prevalence of the syndrome is 1:10,000-30,000 live births, occurs equally, regardless of gender. Although this syndrome is considered rare, experts agree that it is likely underdiagnosed.

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
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