title: Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
abstract: 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. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22-23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.
authors.affiliation: Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.
authors.forename: Antonie D
authors.initials: AD
authors.lastname: Kline
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Ian D
authors.initials: ID
authors.lastname: Krantz
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Deardorff
authors.affiliation: Institute of Molecular and Cellular Biosciences, The University of Tokyo, and CREST, Japanese Science and Technology Agency, Tokyo, Japan.
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Shirahige
authors.affiliation: Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, Saint Louis, Missouri.
authors.forename: Dale
authors.initials: D
authors.lastname: Dorsett
authors.affiliation: Stowers Institute for Medical Research, Department of Biochemistry and Molecular Biology, University of Kansas School of Medicine, Kansas City, Missouri.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Gerton
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
authors.forename: Meng
authors.initials: M
authors.lastname: Wu
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Devanshi
authors.initials: D
authors.lastname: Mehta
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Jason A
authors.initials: JA
authors.lastname: Mills
authors.affiliation: Communication Sciences and Disorders, Elmhurst College, Elmhurst, Illinois.
authors.forename: Cheri S
authors.initials: CS
authors.lastname: Carrico
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Sarah
authors.initials: S
authors.lastname: Noon
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Pamela S
authors.initials: PS
authors.lastname: Herrera
authors.affiliation: Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
authors.forename: Julia A
authors.initials: JA
authors.lastname: Horsfield
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Chiara
authors.initials: C
authors.lastname: Bettale
authors.affiliation: Sanford Children's Health Research Center, Sanford Research, Sioux Falls, South Dakota.
authors.forename: Jeremy
authors.initials: J
authors.lastname: Morgan
authors.affiliation: Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
authors.forename: Sylvia A
authors.initials: SA
authors.lastname: Huisman
authors.affiliation: Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
authors.forename: Jo
authors.initials: J
authors.lastname: Moss
authors.affiliation: Pyramid Educational Consultants, Clinical Research and Development, Newark, Delaware.
authors.forename: Joseph
authors.initials: J
authors.lastname: McCleery
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Baltimore, Maryland.
authors.forename: Marco
authors.initials: M
authors.lastname: Grados
authors.affiliation: Department of Counseling Psychology and Special Education, Brigham Young University, Provo, Utah.
authors.forename: Blake D
authors.initials: BD
authors.lastname: Hansen
authors.affiliation: Child Neurology and Developmental Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Siddharth
authors.initials: S
authors.lastname: Srivastava
authors.affiliation: Florida and Virgin Islands Deaf-Blind Collaborative, University of Florida Health Sciences Center, Gainesville, Florida.
authors.forename: Emily
authors.initials: E
authors.lastname: Taylor-Snell
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, Utah.
authors.forename: Lynne M
authors.initials: LM
authors.lastname: Kerr
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Olivia
authors.initials: O
authors.lastname: Katz
authors.affiliation: Departments of Anatomy and Neurobiology, Developmental and Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine, California.
authors.forename: Anne L
authors.initials: AL
authors.lastname: Calof
authors.affiliation: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Musio
authors.affiliation: Division of Human Genetics, Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland.
authors.forename: Alena
authors.initials: A
authors.lastname: Egense
authors.affiliation: Cornelia de Lange Syndrome Foundation, Avon, Connecticut.
authors.forename: Richard E
authors.initials: RE
authors.lastname: Haaland
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D003635:De Lange Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D010641:Phenotype; D000097722:Cohesins
chemical_list: D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D000097722:Cohesins
keywords: CdLS; behavior; cohesin complex; cohesinopathy; de Lange syndrome; intellectual disability; transcription