1,440 results match your criteria de Lange Syndrome

[Atypical Parkinson's syndrome in old age].

Z Gerontol Geriatr 2022 Jun 24. Epub 2022 Jun 24.

Klinikum Nürnberg, Paracelsus Medizinische Privatuniversität, Breslauerstr. 201, 90471, Nürnberg, Deutschland.

Atypical Parkinson syndromes represent a neuropathologically heterogeneous group and include the clinical entities dementia with Lewy bodies (DLB), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). The DLB and MSA are characterized by deposition of the protein alpha-synuclein (synucleinopathy), PSP and CBD are characterized by deposition of tau protein, often in the form of neurofibrillary tangles in nerve and glial cells (tauopathy). Misfolding and aggregation of the aforementioned proteins causes degeneration of the affected cell populations but the disease also spreads to anatomically neighboring brain regions, thus contributing to disease progression. Read More

View Article and Full-Text PDF

Identification of DCAF1 by Clinical Exome Sequencing and Methylation Analysis as a Candidate Gene for Autism and Intellectual Disability: A Case Report.

J Pers Med 2022 May 27;12(6). Epub 2022 May 27.

Genetics and Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.

Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders and occurs in all racial, ethnic, and socioeconomic groups. Cutting-edge technologies are contributing to understanding genetic underpinnings in ASD. The reported patient is a 32-year-old male and as an infant was noted to have microcephaly, hypospadias, pulmonary vascular anomaly, and small stature. Read More

View Article and Full-Text PDF

G1-Cyclin2 (Cln2) promotes chromosome hypercondensation in eco1/ctf7 rad61 null cells during hyperthermic stress in Saccharomyces cerevisiae.

G3 (Bethesda) 2022 Jun 23. Epub 2022 Jun 23.

Department of Biological Sciences, Lehigh University, 111 Research Drive, Bethlehem, Pennsylvania 18015, United States of America.

Eco1/Ctf7 is a highly conserved acetyltransferase that activates cohesin complexes and is critical for sister chromatid cohesion, chromosome condensation, DNA damage repair, nucleolar integrity, and gene transcription. Mutations in the human homolog of ECO1 (ESCO2/EFO2), or in genes that encode cohesin subunits, result in severe developmental abnormalities and intellectual disabilities referred to as Roberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS), respectively. In yeast, deletion of ECO1 results in cell inviability. Read More

View Article and Full-Text PDF

Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in .

Epilepsy Behav Rep 2022 2;19:100556. Epub 2022 Jun 2.

Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom.

variants are known to cause Cornelia de Lange Syndrome (CdLS) which encompasses a clinical spectrum of intellectual disability, dysmorphic features (long or thick eyebrows, a hypomorphic philtrum and small nose) and, in some cases, epilepsy. More recently, truncating variants have been described as the cause of a neurodevelopmental disorder with early-childhood onset drug-resistant epilepsy with seizures that occur in clusters, similar to that seen in -related epilepsy, but without the classical features of CdLS. Here, we report the case of a 28-year-old woman with a heterozygous truncating variant in who unusually presented with seizures at the late age of 12 years and had normal development into adulthood. Read More

View Article and Full-Text PDF

Cornelia de Lange Syndrome.

Neonatal Netw 2022 May;41(3):145-149

Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000-100,000 newborns. Mutations and/or variants have been identified in seven genes that have been associated with the diagnosis of this disorder. As all of them affect the cohesin complex, CdLS is also referred to as a "transcriptomopathy" or "cohesinopathy. Read More

View Article and Full-Text PDF

A Novel de Novo Variant in 5' UTR of the Associated with Cornelia de Lange Syndrome.

Genes (Basel) 2022 Apr 22;13(5). Epub 2022 Apr 22.

Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China.

Background: Cornelia de Lange syndrome (CdLS) is a genetic syndrome characterized by intellectual disability, special facial features, growth retardation, feeding difficulties, and multiple organ system abnormalities. variants occur in approximately 80% of CdLS cases.

Aims: We report a novel de novo heterozygous pathogenic variant in the and its association with CdLS. Read More

View Article and Full-Text PDF

Global Classification of Mast Cell Activation Disorders: An ICD-10-CM-Adjusted Proposal of the ECNM-AIM Consortium.

J Allergy Clin Immunol Pract 2022 May 25. Epub 2022 May 25.

Department of Hematological Biology, Pitié-Salpêtrière Hospital, Pierre et Marie Curie University (UPMC), Paris, France.

Mast cell activation (MCA) is common and occurs in a number of pathologic conditions, including IgE-dependent and independent allergic reactions, atopic disorders, autoimmune processes, and mastocytosis. In a subset of patients, no underlying disease and no known trigger of MCA are found. When the symptoms are severe, systemic, and recurrent, and accompanied by a diagnostic increase in the serum tryptase level or other mast cell mediators, an MCA syndrome (MCAS) may be diagnosed. Read More

View Article and Full-Text PDF

Transcription Pause and Escape in Neurodevelopmental Disorders.

Front Neurosci 2022 9;16:846272. Epub 2022 May 9.

Department of Cell Biology, Erasmus University Medical Center, Rotterdam, Netherlands.

Transcription pause-release is an important, highly regulated step in the control of gene expression. Modulated by various factors, it enables signal integration and fine-tuning of transcriptional responses. Mutations in regulators of pause-release have been identified in a range of neurodevelopmental disorders that have several common features affecting multiple organ systems. Read More

View Article and Full-Text PDF

Congenital Long QT Syndrome: A Review of Genetic and Pathophysiologic Etiologies, Phenotypic Subtypes and Clinical Management.

Cardiol Rev 2022 May 16. Epub 2022 May 16.

Departments of Medicine and Cardiology, New York Medical College/ Westchester Medical Center, Valhalla, NY.

Congenital Long QT Syndrome (CLQTS) is the most common inherited arrhythmia. The QT interval, which marks the duration of ventricular depolarization and repolarization in the myocardium, can be prolonged due to mutations in genes coding for the ion channel proteins that govern the cardiac action potential. The lengthening of the QT interval can lead to a wide range of clinical symptoms, including seizures, torsades de pointes, and fatal arrhythmias. Read More

View Article and Full-Text PDF

Recurrent Germline Variant in Predisposes Children to Lymphoblastic Leukemia or Lymphoma.

Int J Mol Sci 2022 May 5;23(9). Epub 2022 May 5.

Tettamanti Research Center, Pediatrics, University of Milan Bicocca, Fondazione MBBM/San Gerardo Hospital, 20900 Monza, Italy.

Somatic loss of function mutations in cohesin genes are frequently associated with various cancer types, while cohesin disruption in the germline causes cohesinopathies such as Cornelia-de-Lange syndrome (CdLS). Here, we present the discovery of a recurrent heterozygous germline aberration at amino acid position 298 (p.P298S/A) identified in three children with lymphoblastic leukemia or lymphoma in a total dataset of 482 pediatric cancer patients. Read More

View Article and Full-Text PDF

Prenatal diagnosis of Cornelia de Lange syndrome from 12 to 17 weeks' gestation.

Ting Wu Jiao Chen

Prenat Diagn 2022 May 4. Epub 2022 May 4.

Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China.

View Article and Full-Text PDF

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.

Proc Natl Acad Sci U S A 2022 05 27;119(18):e2201029119. Epub 2022 Apr 27.

Research Institute of Molecular Pathology, Vienna BioCenter, 1030 Vienna, Austria.

Cornelia de Lange syndrome (CdLS) is a developmental multisystem disorder frequently associated with mutations in NIPBL. CdLS is thought to arise from developmental gene regulation defects, but how NIPBL mutations cause these is unknown. Here we show that several NIPBL mutations impair the DNA loop extrusion activity of cohesin. Read More

View Article and Full-Text PDF

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Clin Genet 2022 Apr 25. Epub 2022 Apr 25.

Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, France.

BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic variations in this complex have been associated with a growing number of syndromes, collectively known as cohesinopathies, the most classic being Cornelia de Lange syndrome. However, no cohort study has been conducted to delineate the clinical and molecular spectrum of BRD4-related disorder. Read More

View Article and Full-Text PDF

Age-related hallmarks of psychopathology in Cornelia de Lange and Rubinstein-Taybi syndromes.

Res Dev Disabil 2022 Jul 22;126:104235. Epub 2022 Apr 22.

Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Via Pace 9, Milan, Italy.

Background And Aim: There is mounting evidence highlighting that Cornelia de Lange Syndrome (CdLS) and Rubinstein-Taybi Syndrome's (RSTS) behavioral phenotypes are not stable over individual developmental trajectories and that several psychiatric disorders might arise with age. Our study aims to examine the specific hallmarks of psychopathology and behavioral phenotypes in four different age ranges: infancy and toddlerhood, early childhood, middle childhood, and adolescence, in both genetic syndromes.

Method: The sample included 44 patients with CdLS (48% boys, age = 6. Read More

View Article and Full-Text PDF

uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Hum Mutat 2022 Apr 21. Epub 2022 Apr 21.

Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.

Cornelia de Lange syndrome (CdLS) is a clinically-recognizable rare developmental disorder. About 70% of patients carry a missense or loss-of-function pathogenic variant in the NIPBL gene. We hypothesized that some variants in the 5'-untranslated region (UTR) of NIPBL may create an upstream open reading frame (uORF), putatively leading to a loss of function. Read More

View Article and Full-Text PDF

Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant.

Pediatr Int 2022 01;64(1):e15031

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

View Article and Full-Text PDF
January 2022

Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S).

Stem Cell Res 2022 05 21;61:102756. Epub 2022 Mar 21.

Developmental and Behavioural Pediatric Department & Child Primary Care Department, Brain and Behavioural Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:

Mutations in the HDAC8 are considered to be a prominent cause of Cornelia de Lange syndrome 5, a leading cause of intellectual disability and social disability. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a 5-year-old girl diagnosed with autism spectrum disorder (ASD) who carries a heterozygous mutation in HDAC8 (c.1075C > T, p. Read More

View Article and Full-Text PDF

Potential determinants of unfavourable healthcare utilisation trajectories during the last year of life of people with incident Alzheimer Disease or Related Syndromes: a nationwide cohort study using administrative data.

Age Ageing 2022 03;51(3)

CERPOP, UMR1295, Unité Mixte INSERM - Université Toulouse III Paul Sabatier, Axe Maintain, Aging Research Team, University Toulouse III Paul Sabatier, 37 Allées Jules Guesde, 31000 Toulouse, France.

Background: people approaching the end-of-life frequently face inappropriate care. With Alzheimer Disease or Related Syndromes (ADRS), end-of-life is characterised by progressive decline, but this period remains difficult to identify. This leads to a lack of anticipation and sometimes with unfavourable healthcare utilisation trajectories (HUTs). Read More

View Article and Full-Text PDF

Intracranial hemorrhage in COVID-19 patients during extracorporeal membrane oxygenation for acute respiratory failure: a nationwide register study report.

Crit Care 2022 03 28;26(1):83. Epub 2022 Mar 28.

Institute of Pathology, University Hospital RWTH Aachen, Pauwelsstraße 30, 52074, Aachen, Germany.

Background: In severe cases, SARS-CoV-2 infection leads to acute respiratory distress syndrome (ARDS), often treated by extracorporeal membrane oxygenation (ECMO). During ECMO therapy, anticoagulation is crucial to prevent device-associated thrombosis and device failure, however, it is associated with bleeding complications. In COVID-19, additional pathologies, such as endotheliitis, may further increase the risk of bleeding complications. Read More

View Article and Full-Text PDF

: Umbrella Gene for Multiple Diseases.

Genes (Basel) 2022 03 15;13(3). Epub 2022 Mar 15.

Department of Health Sciences, Università Degli Studi di Milano, 20142 Milan, Italy.

(Lysine methyltransferase 2A) is a member of the epigenetic machinery, encoding a lysine methyltransferase responsible for the transcriptional activation through lysine 4 of histone 3 (H3K4) methylation. has a crucial role in gene expression, thus it is associated to pathological conditions when found mutated. germinal mutations are associated to Wiedemann-Steiner syndrome and also in patients with initial clinical diagnosis of several other chromatinopathies (i. Read More

View Article and Full-Text PDF

Novel compound heterozygous variants in the gene in a patient with Alazami-Yuan syndrome: A case report.

World J Clin Cases 2022 Feb;10(6):1889-1895

Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China.

Background: This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome, and contributes to the current knowledge on the condition.

Case Summary: We report an 11-year-old boy with Alazami-Yuan syndrome. The main clinical manifestations were rapid development of puberty, typical facial features of Cornelia de Lange syndrome, and normal intelligence. Read More

View Article and Full-Text PDF
February 2022

Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.

Brain 2022 Apr;145(2):700-712

Department of Neurology, Clinical Dementia Center and National Reference Center for CJD Surveillance, University Medical School, Göttingen, Germany.

Genetic prion diseases are a rare and diverse group of fatal neurodegenerative disorders caused by pathogenic sequence variations in the prion protein gene, PRNP. Data on CSF biomarkers in patients with genetic prion diseases are limited and conflicting results have been reported for unclear reasons. Here, we aimed to analyse the diagnostic accuracy of CSF biomarkers currently used in prion clinical diagnosis in 302 symptomatic genetic prion disease cases from 11 prion diagnostic centres, encompassing a total of 36 different pathogenic sequence variations within the open reading frame of PRNP. Read More

View Article and Full-Text PDF

Amisulpride and olanzapine combination treatment versus each monotherapy in acutely ill patients with schizophrenia in Germany (COMBINE): a double-blind randomised controlled trial.

Lancet Psychiatry 2022 04 8;9(4):291-306. Epub 2022 Mar 8.

LVR-Clinic Düsseldorf, Department of Psychiatry and Psychotherapy, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany; Kaiserswerther Diakonie, Florence Nightingale Hospital, Department of Psychiatry and Psychotherapy, Düsseldorf, Germany.

Background: Combining antipsychotics is common in schizophrenia treatment, despite evidence-based guidelines generally not recommending such practice. Otherwise, evidence remains inconclusive, especially regarding specific combinations. The trial aimed to test whether a combination of amisulpride plus olanzapine is more effective than either intervention as a monotherapy. Read More

View Article and Full-Text PDF

Congenital paraesophageal hernia with gastric outlet obstruction in a neonate with Cornelia de Lange Syndrome.

Radiol Case Rep 2022 May 3;17(5):1478-1482. Epub 2022 Mar 3.

Department of Pediatric Surgery, Mayo Clinic, 200 1st St. SW, Rochester, MN, 55905, USA.

We describe a case of a newborn being treated for encephalopathy and seizures, whose radiographs since the first day of life demonstrate a persistent ovoid lucency over the central lower chest. A CT performed confirmed a type IV hiatal hernia, which is defined as a paraesophageal type hernia containing a portion of the abdominal viscera. This infant's hernia included the distal stomach, pylorus, and proximal duodenum. Read More

View Article and Full-Text PDF

Uncovering the molecular identity of cardiosphere-derived cells (CDCs) by single-cell RNA sequencing.

Basic Res Cardiol 2022 03 8;117(1):11. Epub 2022 Mar 8.

School of Medicine and Health, Department of Cardiovascular Surgery, Institute Insure, Technical University of Munich, German Heart Center Munich, Lazarettstrasse 36, 80636, Munich, Germany.

Cardiosphere-derived cells (CDCs) generated from human cardiac biopsies have been shown to have disease-modifying bioactivity in clinical trials. Paradoxically, CDCs' cellular origin in the heart remains elusive. We studied the molecular identity of CDCs using single-cell RNA sequencing (sc-RNAseq) in comparison to cardiac non-myocyte and non-hematopoietic cells (cardiac fibroblasts/CFs, smooth muscle cells/SMCs and endothelial cells/ECs). Read More

View Article and Full-Text PDF

[COVID-19 and skin manifestations: overview of current literature].

Hautarzt 2022 Apr 7;73(4):291-297. Epub 2022 Mar 7.

Klinik für Dermatologie, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.

Background: The persistent global pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can manifest on the skin in addition to the already known organ systems. Various clinical patterns of skin manifestations associated with coronavirus disease 2019 (COVID-19) have been described. In view of the associated morbidity and mortality, knowledge of cutaneous manifestations in the setting of COVID-19 may be helpful in early detection, risk stratification, diagnosis and treatment. Read More

View Article and Full-Text PDF

Further Characterization of Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.

J Child Neurol 2022 04 3;37(5):390-396. Epub 2022 Mar 3.

Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.

Cornelia de Lange syndrome is a rare developmental malformation syndrome characterized by small stature, limb anomalies, distinctive facial features, developmental delays, and behavioral issues. The diagnosis of Cornelia de Lange syndrome is made clinically or on the basis of an identified variant in one of the genes associated with Cornelia de Lange syndrome. variants are the cause of 5% of the cases of Cornelia de Lange syndrome. Read More

View Article and Full-Text PDF

Consolidation of the clinical and genetic definition of a related neurodevelopmental syndrome.

J Med Genet 2022 Mar 1. Epub 2022 Mar 1.

Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.

Background: A neurodevelopmental syndrome was recently reported in four patients with heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome.

Methods: We newly identified 17 patients with variants, predicted variant pathogenicity using in silico tests and in vitro functional assays and analysed the patients' phenotypes. Read More

View Article and Full-Text PDF

New KCNQ1 c.604+1G>C variant associated with Jervell-Lange Nielsen syndrome in homozygosity and compound heterozygosity.

Rev Esp Cardiol (Engl Ed) 2022 06 8;75(6):529-531. Epub 2022 Feb 8.

Instituto de Biomedicina de Sevilla (IBiS), HUVR/CSIC/Departamento de Fisiología Médica y Biofísica, Universidad de Sevilla, Sevilla, Spain. Electronic address:

View Article and Full-Text PDF

Anesthetic management of a child with Cornelia de Lange Syndrome undergoing open heart surgery: A case report.

World J Cardiol 2022 Jan;14(1):54-63

Department of Cardiovascular Surgery, Selcuk University Faculty of Medicine, Konya 42130, Turkey.

Background: Cornelia de Lange syndrome (CdLS) is a congenital multisystemic genetic disorder. The expected lifespan of children with this disorder has been prolonged in parallel with the advances in medicine in recent years. However, they still more frequently undergo cardiac surgery. Read More

View Article and Full-Text PDF
January 2022