A de novo likely gene disruptive (LGD) variant in SMC3 was identified in an ASD proband from the Autism Simplex Collection in Stessman et al., 2017. Mutations in the SMC3 gene are associated with a form of Cornelia de Lange syndrome (Cornelia de Lange syndrome 3; OMIM 610759) (Deardorff et al., 2007; Gil-Rodrguez et al., 2015). Phenotypic characterization of 16 patients with Cornelia de Lange-like features caused by SMC3 variants in Gil-Rodrguez et al., 2015 demonstrated that, while intellectual disability was a prominent feature, behavioral problems were less frequently reported (1 individual presented with autism, whereas another presented with autistic features; poor eye contact, attention deficit disorder, aggression, and self-injurious behavior were also observed).
Molecular Function
Central component of cohesin, a complex required for chromosome cohesion during the cell cycle.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
