Cornelia de Lange syndrome, related disorders, and the Cohesin complex

Abstracts from the 8th biennial scientific and educational symposium 2018

Antonie Debra Kline, Ian D. Krantz, Masashige Bando, Katsuhiko Shirahige, Stephenson Chea, Toyonori Sakata, Suhas Rao, Dale Dorsett, Vijay Pratap Singh, Jennifer L. Gerton, Julia A. Horsfield, Anne L. Calof, Olivia Katz, Marco Grados, Sarah Raible, Kristin Baranano, Gholson Lyon, Antonio Musio, Cheri S. Carrico, Douglas K. Clemens & 6 others Patti Caudill, Valentina Massa, Bryan E. McGill, Aila Dommestrup, Julia T O'Connor, Richard E. Haaland

Research output: Contribution to journalArticle

Abstract

Cornelia de Lange Syndrome (CdLS), due to mutations in genes of the cohesin protein complex, is described as a disorder of transcriptional regulation. Phenotypes in this expanding field include short stature, microcephaly, intellectual disability, variable facial features and organ involvement, resulting in overlapping presentations, including established syndromes and newly described conditions. Individuals with all forms of CdLS have multifaceted complications, including neurodevelopmental, feeding, craniofacial, and communication. Coping mechanisms and management of challenging behaviors in CdLS, disruption of normal behaviors, and how behavior molds the life of the individual within the family is now better understood. Some psychotropic medications are known to be effective for behavior. Other medications, for example, Indomethacin, are being investigated for effects on gene expression, fetal brain tissue, brain morphology and function in Drosophila, mice, and human fibroblasts containing CdLS-related mutations. Developmental studies have clarified the origin of cardiac defects and role of placenta in CdLS. Chromosome architecture and cohesin complex structure are elucidated, leading to a better understanding of regulatory aspects and controls. As examples, when mutations are present, the formation of loop domains by cohesin, facilitating enhancer-promotor interactions, can be eliminated, and embryologically, the nuclear structure of zygotes is disrupted. Several important genes are now known to interact with cohesin, including Brca2. The following abstracts are from the 8th Cornelia de Lange Syndrome Scientific and Educational Symposium, held in June 2018, Minneapolis, MN, before the CdLS Foundation National Meeting, AMA CME credits provided by GBMC, Baltimore, MD. All studies have been approved by an ethics committee.

Original languageEnglish (US)
Pages (from-to)1080-1090
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Volume179
Issue number6
DOIs
StatePublished - Jun 1 2019

Fingerprint

De Lange Syndrome
Mutation
Microcephaly
Ethics Committees
Baltimore
Zygote
Brain
cohesins
Indomethacin
Intellectual Disability
Placenta
Drosophila
Fetus
Fungi
Fibroblasts
Chromosomes
Communication
Phenotype
Gene Expression

Keywords

  • behavior
  • CdLS
  • cohesin complex
  • de Lange syndrome
  • loop domains
  • transcription regulation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Cornelia de Lange syndrome, related disorders, and the Cohesin complex : Abstracts from the 8th biennial scientific and educational symposium 2018. / Kline, Antonie Debra; Krantz, Ian D.; Bando, Masashige; Shirahige, Katsuhiko; Chea, Stephenson; Sakata, Toyonori; Rao, Suhas; Dorsett, Dale; Singh, Vijay Pratap; Gerton, Jennifer L.; Horsfield, Julia A.; Calof, Anne L.; Katz, Olivia; Grados, Marco; Raible, Sarah; Baranano, Kristin; Lyon, Gholson; Musio, Antonio; Carrico, Cheri S.; Clemens, Douglas K.; Caudill, Patti; Massa, Valentina; McGill, Bryan E.; Dommestrup, Aila; O'Connor, Julia T; Haaland, Richard E.

In: American Journal of Medical Genetics, Part A, Vol. 179, No. 6, 01.06.2019, p. 1080-1090.

Research output: Contribution to journalArticle

Kline, AD, Krantz, ID, Bando, M, Shirahige, K, Chea, S, Sakata, T, Rao, S, Dorsett, D, Singh, VP, Gerton, JL, Horsfield, JA, Calof, AL, Katz, O, Grados, M, Raible, S, Baranano, K, Lyon, G, Musio, A, Carrico, CS, Clemens, DK, Caudill, P, Massa, V, McGill, BE, Dommestrup, A, O'Connor, JT & Haaland, RE 2019, 'Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018', American Journal of Medical Genetics, Part A, vol. 179, no. 6, pp. 1080-1090. https://doi.org/10.1002/ajmg.a.61108
Kline, Antonie Debra ; Krantz, Ian D. ; Bando, Masashige ; Shirahige, Katsuhiko ; Chea, Stephenson ; Sakata, Toyonori ; Rao, Suhas ; Dorsett, Dale ; Singh, Vijay Pratap ; Gerton, Jennifer L. ; Horsfield, Julia A. ; Calof, Anne L. ; Katz, Olivia ; Grados, Marco ; Raible, Sarah ; Baranano, Kristin ; Lyon, Gholson ; Musio, Antonio ; Carrico, Cheri S. ; Clemens, Douglas K. ; Caudill, Patti ; Massa, Valentina ; McGill, Bryan E. ; Dommestrup, Aila ; O'Connor, Julia T ; Haaland, Richard E. / Cornelia de Lange syndrome, related disorders, and the Cohesin complex : Abstracts from the 8th biennial scientific and educational symposium 2018. In: American Journal of Medical Genetics, Part A. 2019 ; Vol. 179, No. 6. pp. 1080-1090.
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