Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020. Issue 3 (7th December 2021)

• Record Type: Journal Article
• Authors: Oliver, Chris; Groves, Laura; Hansen, Blake D.; Salehi, Masoud; Kheradmand, Shaydah; Carrico, Cheri S.; Caudill, Patti; Mattingly, Mark; Dorsett, Dale; Chea, Stephenson; Singh, Vijay Pratap; Krantz, Ian D.; Huisman, Sylvia; Deardorff, Matthew A.; Kline, Antonie D.
• Is Part Of: American journal of medical genetics. Volume 188:Issue 3(2022)
• Page Start: 1005
• Page End: 1014
• Publication Date: 2021-12-07
• Subjects: autism -- CdLS -- cohesin complex -- de Lange syndrome -- SMC1A -- transcription; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62591
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Cornelia de Lange syndrome (CdLS) is a spectrum disorder due to variants in genes of the cohesin protein complex. The following abstracts are from the Cornelia de Lange Syndrome Scientific and Educational Symposium held virtually in October 2020. Aspects of behavior, including autistic features, impulsivity, adaptive skills, executive function, and anxiety are described. Applied behavioral analysis is a promising approach for autism, and an N‐acetylcysteine trial is proposed. Children below 6 years with CdLS have an increased number of and further travel to medical providers, with insurance type comprising a significant barrier. Speech, language, and feeding abilities fall significantly below expectations for age in CdLS. Augmentative alternative communication can yield potential barriers as well as interesting benefits. Developmentally, studies in animal models further elucidate the mechanisms and roles of cohesin: link with mediator transcriptional complex; facilitation of enhancer‐promoter communication; regulation of gene expression; allocation of cells to germ layers; and repair of spontaneous DNA damage in placental cells. Genome and RNA sequencing can help identify the molecular cause in the 20% of individuals with suspected CdLS and negative testing. The phenotypes in individuals with variants in the SMC1A gene are distinct, and that with intractable seizures has been further evaluated. AMA CME credits provided by GBMC, Baltimore, MD. All studies approved by an ethics committee.