title: Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.
abstract: Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. 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: Department of Anatomy & Neurobiology, and the Center for Complex Biological Systems, University of California, Irvine, California.|Department of Developmental & 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: Department of Developmental & Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine, California.
authors.forename: Arthur D
authors.initials: AD
authors.lastname: Lander
authors.affiliation: Stowers Institute for Medical Research, University of Kansas School of Medicine, Kansas City, Missouri.|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: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
authors.forename: Ian D
authors.initials: ID
authors.lastname: Krantz
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: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Deardorff
authors.affiliation: Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.
authors.forename: Natalie
authors.initials: N
authors.lastname: Blagowidow
authors.affiliation: Department of Biologic Chemistry, University of California, Irvine, California.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Yokomori
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: Department of Developmental & Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine, California.
authors.forename: Rosaysela
authors.initials: R
authors.lastname: Santos
authors.affiliation: Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Denver, Colorado.
authors.forename: Julie
authors.initials: J
authors.lastname: Woodman
authors.affiliation: Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Denver, Colorado.
authors.forename: Paul C
authors.initials: PC
authors.lastname: Megee
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Kennedy Krieger Institute, Baltimore, Maryland.|Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Julia T
authors.initials: JT
authors.lastname: O'Connor
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: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Sarah
authors.initials: S
authors.lastname: Noon
authors.affiliation: California Deaf-Blind Services, San Francisco State University, San Francisco, California.
authors.forename: Maurice
authors.initials: M
authors.lastname: Belote
authors.affiliation: Speech Language Pathology, Elmhurst College, Elmhurst, Illinois.
authors.forename: Marjorie T
authors.initials: MT
authors.lastname: Goodban
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: University of Minnesota Doctor of Nursing Practice-Health Innovation and Leadership, Minneapolis, Minnesota.
authors.forename: Jenni Glad
authors.initials: JG
authors.lastname: Timmons
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: Departments of Otolaryngology and Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio.
authors.forename: Stacey L
authors.initials: SL
authors.lastname: Ishman
authors.affiliation: Department of Anesthesiology, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina.
authors.forename: Yvon
authors.initials: Y
authors.lastname: Bryan
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Yaning
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Pediatrics, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.
authors.forename: Laura R
authors.initials: LR
authors.lastname: Bettini
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Devanshi
authors.initials: D
authors.lastname: Mehta
authors.affiliation: Stowers Institute for Medical Research, University of Kansas School of Medicine, Kansas City, Missouri.
authors.forename: Musinu
authors.initials: M
authors.lastname: Zakari
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Jason A
authors.initials: JA
authors.lastname: Mills
authors.affiliation: Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Siddharth
authors.initials: S
authors.lastname: Srivastava
authors.affiliation: Cornelia de Lange Syndrome Foundation, Avon, Connecticut.
authors.forename: Richard E
authors.initials: RE
authors.lastname: Haaland
mesh_terms: D000328:Adult; D000818:Animals; D002140:California; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics* / Q000378:metabolism; D003635:De Lange Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004195:Disease Models, Animal; D004331:Drosophila melanogaster / Q000235:genetics / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D051379:Mice; D009154:Mutation; D010641:Phenotype; D015398:Signal Transduction; D015027:Zebrafish / Q000235:genetics / Q000378:metabolism; D000097722:Cohesins
chemical_list: D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D000097722:Cohesins
keywords: CdLS; cohesin complex; cohesinopathy; de Lange syndrome; drosophila; intellectual disability; mice; zebrafish