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Am J Med Genet A. 2017 May;173(5):1172-1185. doi: 10.1002/ajmg.a.38161. Epub 2017 Feb 12.

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

Author information

1
Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.
2
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
3
Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania.
4
Institute of Molecular and Cellular Biosciences, The University of Tokyo, and CREST, Japanese Science and Technology Agency, Tokyo, Japan.
5
Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, Saint Louis, Missouri.
6
Stowers Institute for Medical Research, Department of Biochemistry and Molecular Biology, University of Kansas School of Medicine, Kansas City, Missouri.
7
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
8
Communication Sciences and Disorders, Elmhurst College, Elmhurst, Illinois.
9
Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
10
Sanford Children's Health Research Center, Sanford Research, Sioux Falls, South Dakota.
11
Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
12
Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
13
Pyramid Educational Consultants, Clinical Research and Development, Newark, Delaware.
14
Department of Psychiatry and Behavioral Sciences, Baltimore, Maryland.
15
Department of Counseling Psychology and Special Education, Brigham Young University, Provo, Utah.
16
Child Neurology and Developmental Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
17
Florida and Virgin Islands Deaf-Blind Collaborative, University of Florida Health Sciences Center, Gainesville, Florida.
18
Division of Pediatric Neurology, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, Utah.
19
Departments of Anatomy and Neurobiology, Developmental and Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine, California.
20
Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.
21
Division of Human Genetics, Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland.
22
Cornelia de Lange Syndrome Foundation, Avon, Connecticut.

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.

KEYWORDS:

CdLS; behavior; cohesin complex; cohesinopathy; de Lange syndrome; intellectual disability; transcription

PMID:
28190301
PMCID:
PMC5758041
DOI:
10.1002/ajmg.a.38161
[Indexed for MEDLINE]
Free PMC Article

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