RESUMEN

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.

Asunto(s)

Proteínas de Ciclo Celular/genética , Proteínas Cromosómicas no Histona/genética , Síndrome de Cornelia de Lange/genética , Regulación del Desarrollo de la Expresión Génica , Mutación , Adulto , Animales , California , Proteínas de Ciclo Celular/metabolismo , Niño , Proteínas Cromosómicas no Histona/metabolismo , Síndrome de Cornelia de Lange/metabolismo , Síndrome de Cornelia de Lange/patología , Modelos Animales de Enfermedad , Drosophila melanogaster/genética , Drosophila melanogaster/metabolismo , Humanos , Ratones , Fenotipo , Transducción de Señal , Pez Cebra/genética , Pez Cebra/metabolismo , Cohesinas

RESUMEN

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.

Asunto(s)

Proteínas de Ciclo Celular/genética , Proteínas Cromosómicas no Histona/genética , Anomalías Craneofaciales/genética , Síndrome de Cornelia de Lange/genética , Ectromelia/genética , Hipertelorismo/genética , Proteínas/genética , Acetiltransferasas/genética , Envejecimiento Prematuro/genética , Animales , Cromatina/genética , Trastornos del Conocimiento/genética , Drosophila , Conducta Alimentaria , Haploinsuficiencia , Cardiopatías Congénitas/embriología , Cardiopatías Congénitas/genética , Humanos , Ratones , Modelos Animales , Proteínas del Grupo Polycomb/genética , Biosíntesis de Proteínas/genética , Homeostasis del Telómero , Pez Cebra , Cohesinas