Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-10

AUTHORS

Antonie D. Kline, Joanna F. Moss, Angelo Selicorni, Anne-Marie Bisgaard, Matthew A. Deardorff, Peter M. Gillett, Stacey L. Ishman, Lynne M. Kerr, Alex V. Levin, Paul A. Mulder, Feliciano J. Ramos, Jolanta Wierzba, Paola Francesca Ajmone, David Axtell, Natalie Blagowidow, Anna Cereda, Antonella Costantino, Valerie Cormier-Daire, David FitzPatrick, Marco Grados, Laura Groves, Whitney Guthrie, Sylvia Huisman, Frank J. Kaiser, Gerritjan Koekkoek, Mary Levis, Milena Mariani, Joseph P. McCleery, Leonie A. Menke, Amy Metrena, Julia O’Connor, Chris Oliver, Juan Pie, Sigrid Piening, Carol J. Potter, Ana L. Quaglio, Egbert Redeker, David Richman, Claudia Rigamonti, Angell Shi, Zeynep Tümer, Ingrid D. C. Van Balkom, Raoul C. Hennekam

ABSTRACT

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning. More... »

PAGES

1-18

References to SciGraph publications

  • 2011-08. Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2009-08. Social Anxiety in Cornelia de Lange Syndrome in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2005-03. X-inactivation profile reveals extensive variability in X-linked gene expression in females in NATURE
  • 2017-12. Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein–Taybi Syndromes in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2006-05. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations in NATURE GENETICS
  • 2014-09. Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome in JOURNAL OF HUMAN GENETICS
  • 2012-09. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle in NATURE
  • 2004-06. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B in NATURE GENETICS
  • 2008-05. The Relationship Between Sensory Processing Patterns and Behavioural Responsiveness in Autistic Disorder: A Pilot Study in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2016-05. Self-reported Pleasantness Ratings and Examiner-Coded Defensiveness in Response to Touch in Children with ASD: Effects of Stimulus Material and Bodily Location in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2004-06. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome in NATURE GENETICS
  • 2015-08. Neuroimaging features of Cornelia de Lange syndrome in PEDIATRIC RADIOLOGY
  • 2009-04. The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2002-09. Neuropathological analysis of an adult case of the Cornelia de Lange syndrome in ACTA NEUROPATHOLOGICA
  • 2012-07. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-04. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin in NATURE GENETICS
  • 2013-01. Anxiety, Sensory Over-Responsivity, and Gastrointestinal Problems in Children with Autism Spectrum Disorders in JOURNAL OF ABNORMAL CHILD PSYCHOLOGY
  • 2015-02. Unpredictable drug reaction in a child with Cornelia de Lange syndrome in INTERNATIONAL JOURNAL OF CLINICAL PHARMACY
  • 2018-03. BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome in NATURE GENETICS
  • 2015-05. Ophthalmologische Manifestationen des Cornelia-de-Lange-Syndroms in DER OPHTHALMOLOGE
  • 2010-09. Mediator and cohesin connect gene expression and chromatin architecture in NATURE
  • 2017-12. Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2015-12. Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41576-018-0031-0

    DOI

    http://dx.doi.org/10.1038/s41576-018-0031-0

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1105451796

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29995837


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