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    Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
    J Hum Genet 2017 Dec 26. Epub 2017 Dec 26.
    Department of Human Genetics, University of Chicago, Chicago, IL, USA.
    Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account for ~70% of cases. Herein we report on four female Subjects who were found to carry novel intragenic deletions in HDAC8. In one case, the deletion was found in mosaic state and it was determined to be present in ~38% of blood lymphocytes and in nearly all cells of a buccal sample. Read More

    Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.
    PLoS Genet 2017 12 20;13(12):e1007137. Epub 2017 Dec 20.
    Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.
    Cohesin is crucial for genome stability, cell division, transcription and chromatin organization. Its functions critically depend on NIPBL, the cohesin-loader protein that is found to be mutated in >60% of the cases of Cornelia de Lange syndrome (CdLS). Other mutations are described in the cohesin subunits SMC1A, RAD21, SMC3 and the HDAC8 protein. Read More

    Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.
    Orphanet J Rare Dis 2017 Nov 21;12(1):174. Epub 2017 Nov 21.
    Department of Health Sciences, San Paolo Hospital Medical School University of Milan, Via A. di Rudinì, 8, 20142, Milan, Italy.
    Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a fundamental role in central nervous system development and it has been shown that Wnt pathway is disrupted in CdLS animal models and patients cells. Read More

    Novel mosaic variants in two patients with Cornelia de Lange syndrome.
    Eur J Med Genet 2017 Nov 15. Epub 2017 Nov 15.
    Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:
    Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of the syndrome and heterozygous mutations can be identified in more than 65% of patients. Interestingly, large portions of these variants were described as somatic mosaicism and often escape standard molecular diagnostics using lymphocyte DNA. Read More

    Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome.
    Biol Open 2017 Dec 15;6(12):1802-1813. Epub 2017 Dec 15.
    Department of Biological Science, Lehigh University, Bethlehem, Pennsylvania 18015, USA
    Robert syndrome (RBS) and Cornelia de Lange syndrome (CdLS) are human developmental disorders characterized by craniofacial deformities, limb malformation and mental retardation. These birth defects are collectively termed cohesinopathies as both arise from mutations in cohesion genes. CdLS arises due to autosomal dominant mutations or haploinsufficiencies in cohesin subunits (SMC1A, SMC3 and RAD21) or cohesin auxiliary factors (NIPBL and HDAC8) that result in transcriptional dysregulation of developmental programs. Read More

    Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
    Gene 2018 Jan 14;641:144-150. Epub 2017 Oct 14.
    Department of Neurosurgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. Electronic address:
    Syndromic craniosynostosis is a group of multiple conditions with high heterogeneity, and many rare syndromes still remain to be characterized. To identify and analyze causative genetic variants in nine unrelated probands mainly manifested as syndromic craniosynostosis, we reviewed the relevant medical information of the patients and performed the whole exome sequencing, further verified with Sanger sequencing and parental background. Bioinformatics analysis was used to evaluate the potential deleterious or benign effect of each genetic variant through evolutionary conservation alignment, multi-lines of computer predication and the allele frequency in population dataset (control and patient). Read More

    Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature.
    Clin Genet 2017 Oct 10. Epub 2017 Oct 10.
    Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
    The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Rett-like refers to phenotypes with distinct overlapping features of Rett syndrome where the clinical criteria are not completely fulfilled. In this paper we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encephalopathies for example due to STXBP1 variants. Read More

    Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
    Mol Genet Genomic Med 2017 Sep 21;5(5):592-601. Epub 2017 Jun 21.
    Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary DisordersKing Abdulaziz UniversityJeddahSaudi Arabia.
    Background: One of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono-allelic mutations in the KCNQ1 gene. Bi-allelic mutations in the KCNQ1 gene are causal to Jervell and Lange-Nielsen syndrome (JLNS), characterized by severe and early-onset arrhythmias with prolonged QTc interval on surface ECG and sensorineural deafness. Occasionally, bi-allelic mutations in KCNQ1 are also found in patients without any deafness, referred to as autosomal recessive long QT syndrome, type 1 (AR LQT1). Read More

    Synophrys: Epidemiological Study.
    Int J Trichology 2017 Jul-Sep;9(3):105-107
    Department of Dermatology, Saham Hospital, Muscat, Oman.
    Introduction: Fusion of eyebrows above the bridge of nose is known as synophrys and is a normal variation. This variation is also recognized as a clinical feature of several genetic disorders, Cornelia De Lange syndrome being the commonest. Several studies, on aesthetics of face and eyebrows have been conducted, also on the role of eyebrows in emotional expression and nonverbal communication. Read More

    An experimental study of executive function and social impairment in Cornelia de Lange syndrome.
    J Neurodev Disord 2017 Sep 11;9(1):33. Epub 2017 Sep 11.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, B15 2TT, Edgbaston, UK.
    Background: Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they are related to impairments in executive functioning.

    Methods: A familiar and unfamiliar examiner separately engaged in socially demanding tasks comprising three experimental conditions with a group of individuals with CdLS (n = 25; % male = 44; mean age = 22. Read More

    Cornelia de lange syndrome with thyroid agenesis of an indonesian patient.
    Cell Mol Biol (Noisy-le-grand) 2017 Aug 30;63(8):93-94. Epub 2017 Aug 30.
    Department of Child Health, Faculty of Medicine, Universitas Padjadjaran /Hasan Sadikin General Hospital, Bandung, Indonesia.
    Cornelia de Lange syndrome (CdLs), which is also called Brachmann de Lange syndrome, is a congenital disorder characterized by distinctive facial features, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. The prevalence ranges from 1:100,000 to as high as 1:10,000. Most cases (50-60%) were carried mutation in NIPBL gene. Read More

    Cognitive flexibility and its electrophysiological correlates in Gilles de la Tourette syndrome.
    Dev Cogn Neurosci 2017 Oct 18;27:78-90. Epub 2017 Aug 18.
    Department of Neurology, Hannover Medical School, Hannover, Germany.
    Motor symptoms in Gilles de la Tourette syndrome (GTS) have been related to changes in frontostriatal brain networks. These changes may also give rise to alterations in cognitive flexibility. However, conclusive evidence for altered cognitive flexibility in patients with GTS is still lacking. Read More

    The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.
    Clin Epigenetics 2017 25;9:89. Epub 2017 Aug 25.
    Department of Biological Chemistry, School of Medicine, University of California, Irvine, CA 92697 USA.
    Background: Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of Nipped-B-like (NIPBL), the human homolog of Drosophila Nipped-B. NIPBL loads cohesin onto chromatin. Cohesin mediates sister chromatid cohesion important for mitosis but is also increasingly recognized as a regulator of gene expression. Read More

    Cornelia de Lange syndrome: What every otolaryngologist should know.
    Ear Nose Throat J 2017 Aug;96(8):E6-E9
    Department of Otolaryngology, Naval Medical Center, 620 John Paul Jones Circle, Portsmouth, VA 23708, USA.
    Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We present the case of a 20-month-old boy with CdLS actively managed by an aerodigestive team consisting of pediatric otolaryngology, pediatric pulmonology, pediatric gastroenterology, with support staff from audiology, speech, and nutrition. His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive. Read More

    Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.
    J Neurodev Disord 2017 15;9:29. Epub 2017 Aug 15.
    Cerebra Centre of Neurodevelopmental Disorders, University of Birmingham, Birmingham, UK.
    Background: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.

    Methods: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5. Read More

    Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.
    J Neurodev Disord 2017 Aug 15;9(1):29. Epub 2017 Aug 15.
    Cerebra Centre of Neurodevelopmental Disorders, University of Birmingham, Birmingham, UK.
    Background: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.

    Methods: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5. Read More

    Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.
    Clin Case Rep 2017 Aug 28;5(8):1277-1283. Epub 2017 Jun 28.
    Department of PediatricsDivision of Medical GeneticsChildren's Hospital of Pittsburgh of UPMCPittsburghPennsylvania.
    Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Read More

    Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.
    Birth Defects Res 2017 Oct 28;109(16):1268-1276. Epub 2017 Jul 28.
    Università degli Studi di Milano, Dipartimento di Scienze della Salute, Milan, Italy.
    Background: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting the neurodevelopment, gastrointestinal, musculoskeletal systems. CdLS is caused by mutations within NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes. These genes codify for the "cohesin complex" playing a role in chromatid adhesion, DNA repair and gene expression regulation. Read More

    Self-injurious behavior.
    Neurosci Biobehav Rev 2018 Jan 8;84:483-491. Epub 2017 Jul 8.
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
    Self-injurious behavior (SIB) is a relatively common behavior in individuals with intellectual disabilities (ID). Severe SIB can be devastating and potentially life-threatening. There is increasing attention for somatic substrates of behavior in genetic syndromes, and growing evidence of an association between pain and discomfort with SIB in people with ID and genetic syndromes. Read More

    Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.
    Genetics 2017 09 5;207(1):139-151. Epub 2017 Jul 5.
    Centre de Recherche du Centre Hospitalier Universitaire de Québec-Université Laval, Québec G1V 4G2, Canada
    Cornelia de Lange syndrome (CdLS) is a complex multisystem developmental disorder caused by mutations in cohesin subunits and regulators. While its precise molecular mechanisms are not well defined, they point toward a global deregulation of the transcriptional gene expression program. Cohesin is associated with the boundaries of chromosome domains and with enhancer and promoter regions connecting the three-dimensional genome organization with transcriptional regulation. Read More

    Congenital Long QT syndrome and torsade de pointes.
    Ann Noninvasive Electrocardiol 2017 Nov 2;22(6). Epub 2017 Jul 2.
    Downstate Medical Center, State University of New York, Brooklyn, NY, USA.
    Since its initial description by Jervell and Lange-Nielsen in 1957, the congenital long QT syndrome (LQTS) has been the most investigated cardiac ion channelopathy. A prolonged QT interval in the surface electrocardiogram is the sine qua non of the LQTS and is a surrogate measure of the ventricular action potential duration (APD). Congenital as well as acquired alterations in certain cardiac ion channels can affect their currents in such a way as to increase the APD and hence the QT interval. Read More

    Scuba diving and otology: a systematic review with recommendations on diagnosis, treatment and post-operative care.
    Diving Hyperb Med 2017 Jun;47(2):97-109
    Division of Otolaryngology - Head and Neck Surgery, Department of Surgery, University of Calgary, Alberta, Canada.
    Scuba diving is a popular recreational and professional activity with inherent risks. Complications related to barotrauma and decompression illness can pose significant morbidity to a diver's hearing and balance systems. The majority of dive-related injuries affect the head and neck, particularly the outer, middle and inner ear. Read More

    Cornelia de Lange syndrome: Congenital heart disease in 149 patients.
    Med Clin (Barc) 2017 Oct 16;149(7):300-302. Epub 2017 Jun 16.
    Unidad de Genética Clínica y Genómica Funcional, Departamentos de Farmacología-Fisiología y Servicio de Pediatría del Hospital Clínico Universitario "Lozano Blesa". Facultad de Medicina, Universidad de Zaragoza. Instituto de Investigación Sanitaria (IIS)-Aragón, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-GCV02, Zaragoza, España. Electronic address:
    Introduction: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. Read More

    Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.
    J Clin Res Pediatr Endocrinol 2017 Dec 7;9(4):366-370. Epub 2017 Jun 7.
    Leiden University Medical Center, Department of Pediatrics, Leiden, The Netherlands.
    Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Read More

    Parry Romberg syndrome presenting with a giant intracranial aneurysm: a case report.
    Oxf Med Case Reports 2017 May 30;2017(5):omx017. Epub 2017 May 30.
    Department of Paediatrics, Máxima Medical Center, 5504 DB Veldhoven, The Netherlands.
    A giant intracranial aneurysm was diagnosed in a 10-year-old girl when she developed a right abducens nerve palsy. The aneurysm was treated successfully. Six years later, however, she presented with a progressive en coup de sabre deformity, leading to the diagnosis Parry Romberg Syndrome (PRS), a rare diagnosis characterized by hemifacial atrophy of skin, subcutaneous tissue, skeletal muscle and bones and often associated with various non-specific intracerebral abnormalities. Read More

    Phenotypes and genotypes in individuals with SMC1A variants.
    Am J Med Genet A 2017 Aug 26;173(8):2108-2125. Epub 2017 May 26.
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
    SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. Read More

    Cornelia de Lange syndrome: To diagnose or not to diagnose in utero?
    Birth Defects Res 2017 Jun 22;109(10):771-777. Epub 2017 May 22.
    Department of Health Sciences, San Paolo Hospital Medical School University of Milan, Milan, Italy-EU.
    Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk. Read More

    [Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].
    Arch Argent Pediatr 2017 06;115(3):e170-e174
    Escuela de Medicina, Universidad Industrial de Santander.
    Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. Read More

    Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
    Am J Med Genet A 2017 Jun 19;173(6):1566-1574. Epub 2017 Apr 19.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
    Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex have been identified in up to 70% of individuals. Genetic cause remains unknown for a proportion of individuals. Read More

    How many roads lead to cohesinopathies?
    Dev Dyn 2017 Nov 22;246(11):881-888. Epub 2017 May 22.
    Department of Biological Science, Lehigh University, Bethlehem, Pennsylvania.
    Genetic mapping studies reveal that mutations in cohesion pathways are responsible for multispectrum developmental abnormalities termed cohesinopathies. These include Roberts syndrome (RBS), Cornelia de Lange Syndrome (CdLS), and Warsaw Breakage Syndrome (WABS). The cohesinopathies are characterized by overlapping phenotypes ranging from craniofacial deformities, limb defects, and mental retardation. Read More

    Decreased cohesin in the brain leads to defective synapse development and anxiety-related behavior.
    J Exp Med 2017 May 13;214(5):1431-1452. Epub 2017 Apr 13.
    Department of Molecular Neuroscience, Graduate School of Medicine, Osaka University, Osaka 565-0871, Japan
    Abnormal epigenetic regulation can cause the nervous system to develop abnormally. Here, we sought to understand the mechanism by which this occurs by investigating the protein complex cohesin, which is considered to regulate gene expression and, when defective, is associated with higher-level brain dysfunction and the developmental disorder Cornelia de Lange syndrome (CdLS). We generated conditional Smc3-knockout mice and observed greater dendritic complexity and larger numbers of immature synapses in the cerebral cortex of Smc3+/- mice. Read More

    Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
    J Allergy Clin Immunol 2018 Jan 7;141(1):322-328.e10. Epub 2017 Apr 7.
    Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom. Electronic address:
    Background: Rare DNA breakage repair disorders predispose to infection and lymphoreticular malignancies. Hematopoietic cell transplantation (HCT) is curative, but coadministered chemotherapy or radiotherapy is damaging because of systemic radiosensitivity. We collected HCT outcome data for Nijmegen breakage syndrome, DNA ligase IV deficiency, Cernunnos-XRCC4-like factor (Cernunnos-XLF) deficiency, and ataxia-telangiectasia (AT). Read More

    Ending AIDS as a public health threat by 2030: Scientific Developments from the 2016 INTEREST Conference in Yaoundé, Cameroon.
    Antivir Ther 2017 7;22(2):179-184. Epub 2017 Apr 7.
    Makarere University College of Health Sciences in Kampala, Kampala, Uganda.
    The underpinning theme of the 2016 INTEREST Conference held in Yaoundé, Cameroon, 3-6 May 2016 was ending AIDS as a public health threat by 2030. Focused primarily on HIV treatment, pathogenesis and prevention research in resource-limited settings, the conference attracted 369 active delegates from 34 countries, of which 22 were in Africa. Presentations on treatment optimization, acquired drug resistance, care of children and adolescents, laboratory monitoring and diagnostics, implementation challenges, HIV prevention, key populations, vaccine and cure, hepatitis C, mHealth, financing the HIV response and emerging pathogens, were accompanied by oral, mini-oral and poster presentations. Read More

    Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
    J Med Case Rep 2017 Apr 2;11(1):88. Epub 2017 Apr 2.
    Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
    Background: Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. Cardiac symptoms arise mostly in early childhood and consist of syncopal episodes during periods of stress, exercise, or fright and are associated with a high risk of sudden cardiac death. Read More

    mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
    Int J Mol Sci 2017 Feb 23;18(3). Epub 2017 Feb 23.
    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.
    Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction). Read More

    Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
    Am J Med Genet A 2017 May 12;173(5):1172-1185. Epub 2017 Feb 12.
    Cornelia de Lange Syndrome Foundation, Avon, Connecticut.
    Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Read More

    Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
    Epilepsia 2017 04 6;58(4):565-575. Epub 2017 Feb 6.
    The Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, United Kingdom.
    Objective: The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Read More

    'Our nurse has been an amazing advocate for our non-verbal child'.
    • Authors:
    Nurs Stand 2017 Feb;31(23):65
    My son Conor is an 11-year-old boy with a rare genetic condition called Cornelia de Lange Syndrome and complex needs. We have encountered many medical and nursing staff on our journey, but learning disability community nurse Lisa Harris, who works for the Western Health and Social Care Trust in Derry, Northern Ireland, stands out. Read More

    Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.
    J Autism Dev Disord 2017 Dec;47(12):3728-3740
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
    Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales. Read More

    Behavioral and psychiatric manifestations in Cornelia de Lange syndrome.
    Curr Opin Psychiatry 2017 Mar;30(2):92-96
    aDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USAbJinnah Sindh Medical University, Karachi, PakistancDepartment of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
    Purpose Of Review: Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with clinical manifestations due to multiple affected organ systems including limbs, gastrointestinal, skin, and central nervous systems. Although the genetic basis of CdLS is now uncovered, how behavioral manifestations are associated with genetic and brain differences are less well understood. The current focused review systematically describes the main behavioral observations to date in individuals with CdLS, which have a significant impact on quality of life and adaptive functioning. Read More

    Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
    Hum Genet 2017 Mar 24;136(3):307-320. Epub 2017 Jan 24.
    Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.
    The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional regulators cause a group of neurodevelopmental disorders termed "transcriptomopathies" that share core phenotypical features including growth retardation, developmental delay, intellectual disability and facial dysmorphism. Cornelia de Lange syndrome (CdLS) belongs to this class of disorders and is caused by mutations in different subunits or regulators of the cohesin complex. Read More

    Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
    Am J Med Genet A 2017 Feb 7;173(2):414-420. Epub 2016 Nov 7.
    Division of Cardiology, Seattle Children's Hospital, Seattle, Washington.
    Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate. Read More

    Pharmacological and surgical therapy for the central giant cell granuloma: A long-term retrospective cohort study.
    J Craniomaxillofac Surg 2017 Feb 9;45(2):232-243. Epub 2016 Dec 9.
    Department of Oral and Maxillofacial Surgery (Head: Prof. J. de Lange), Academic Medical Center, Academic Center Dentistry Amsterdam and University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. Electronic address:
    Purpose: This is a retrospective cohort study of patients with a central giant cell granuloma (CGCG) treated at a single center to assess and compare the different surgical and non-surgical approaches.

    Material And Methods: A cohort with a single histologically proven non-syndrome-related CGCG was selected and reviewed. Patients were allocated to group I (surgery), group II (pharmacotherapy), and group III (pharmacotherapy and surgery). Read More

    Coronal clival cleft in CHARGE syndrome.
    Neuroradiol J 2017 Dec 6;30(6):574-577. Epub 2017 Jan 6.
    1 Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC, USA.
    CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. Read More

    Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration.
    Neuron 2017 Jan 29;93(2):348-361. Epub 2016 Dec 29.
    The Francis Crick Institute, Mill Hill Laboratory, The Ridgeway, London NW7 1AA, UK. Electronic address:
    Mutations in NIPBL are the most frequent cause of Cornelia de Lange syndrome (CdLS), a developmental disorder encompassing several neurological defects, including intellectual disability and seizures. How NIPBL mutations affect brain development is not understood. Here we identify Nipbl as a functional interaction partner of the neural transcription factor Zfp609 in brain development. Read More

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