TY - JOUR
T1 - Cornelia de Lange syndrome, related disorders, and the Cohesin complex
T2 - Abstracts from the 8th biennial scientific and educational symposium 2018
AU - Kline, Antonie D.
AU - Krantz, Ian D.
AU - Bando, Masashige
AU - Shirahige, Katsuhiko
AU - Chea, Stephenson
AU - Sakata, Toyonori
AU - Rao, Suhas
AU - Dorsett, Dale
AU - Singh, Vijay Pratap
AU - Gerton, Jennifer L.
AU - Horsfield, Julia A.
AU - Calof, Anne L.
AU - Katz, Olivia
AU - Grados, Marco
AU - Raible, Sarah
AU - Barañano, Kristin
AU - Lyon, Gholson
AU - Musio, Antonio
AU - Carrico, Cheri S.
AU - Clemens, Douglas K.
AU - Caudill, Patti
AU - Massa, Valentina
AU - McGill, Bryan E.
AU - Dommestrup, Aila
AU - O'Connor, Julia
AU - Haaland, Richard E.
N1 - Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/6
Y1 - 2019/6
N2 - 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.
AB - 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.
KW - CdLS
KW - behavior
KW - cohesin complex
KW - de Lange syndrome
KW - loop domains
KW - transcription regulation
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U2 - 10.1002/ajmg.a.61108
DO - 10.1002/ajmg.a.61108
M3 - Article
C2 - 30874362
AN - SCOPUS:85062955891
SN - 1552-4825
VL - 179
SP - 1080
EP - 1090
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 6
ER -