Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts

Am J Med Genet A. 2014 Jun;164A(6):1384-93. doi: 10.1002/ajmg.a.36417. Epub 2014 Feb 6.

Abstract

Cornelia de Lange syndrome (CdLS) is the prototype for the cohesinopathy disorders that have mutations in genes associated with the cohesin subunit in all cells. Roberts syndrome is the next most common cohesinopathy. In addition to the developmental implications of cohesin biology, there is much translational and basic research, with progress towards potential treatment for these conditions. Clinically, there are many issues in CdLS faced by the individual, parents and caretakers, professionals, and schools. The following abstracts are presentations from the 5th Cornelia de Lange Syndrome Scientific and Educational Symposium on June 20-21, 2012, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting, Lincolnshire, IL. The research committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts and subsequently disseminates the information to the families. In addition to the basic science and clinical discussions, there were educationally-focused talks related to practical aspects of management at home and in school. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

Keywords: CdLS; Roberts syndrome; cohesins; de Lange syndrome; drosophila; intellectual disability; mice; zebrafish.

MeSH terms

  • Acetyltransferases / genetics
  • Aging, Premature / genetics
  • Animals
  • Cell Cycle Proteins / genetics*
  • Chromatin / genetics
  • Chromosomal Proteins, Non-Histone / genetics*
  • Cognition Disorders / genetics
  • Craniofacial Abnormalities / genetics*
  • De Lange Syndrome / genetics*
  • Drosophila
  • Ectromelia / genetics*
  • Feeding Behavior
  • Haploinsufficiency
  • Heart Defects, Congenital / embryology
  • Heart Defects, Congenital / genetics
  • Humans
  • Hypertelorism / genetics*
  • Mice
  • Models, Animal
  • Polycomb-Group Proteins / genetics
  • Protein Biosynthesis / genetics
  • Proteins / genetics*
  • Telomere Homeostasis
  • Zebrafish

Substances

  • Cell Cycle Proteins
  • Chromatin
  • Chromosomal Proteins, Non-Histone
  • NIPBL protein, human
  • Polycomb-Group Proteins
  • Proteins
  • cohesins
  • Acetyltransferases
  • ESCO2 protein, human

Supplementary concepts

  • Roberts Syndrome