Aliases: CDLS4, HR21, HRAD21, MCD1, NXP1, SCC1, hHR21
Chromosome No: 8
Chromosome Band: 8q24.11
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Cornelia de Lange syndrome-4 (CDLS4)
ASD Reports: 7
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 7
Evidence score: 0
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Relevance to Autism
Heterozygous mutations in the RAD21 gene are responsible for a form of Cornelia de Lange syndrome (Cornelia de Lange syndrome-4 ; OMIM 614701) (Deardorff et al., 2012; Ansari et al., 2014). A comparison of the primary clinical findings in individuals with molecularly confirmed Cornelia de Lange syndrome in Kline et al., 2018 determined that 20-49% of individuals with RAD21 mutations presented with autism spectrum disorder.
Molecular Function
Cleavable component of the cohesin complex, involved in chromosome cohesion during cell cycle, in DNA repair, and in apoptosis. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At metaphase-anaphase transition, this protein is cleaved by separase/ESPL1 and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis.
External Links
