Phenotypic characterization of 17 individuals from 16 families with either deletions or point mutations affecting the STAG1 gene demonstrated that STAG1 mutations were responsible for a form of syndromic intellectual disability (Lehalle et al., 2017). In addition to frequently observed phenotypes such as epilepsy and dysmorphic facial features, seven of the 17 individuals described in this report presented with autistic features, with one individual formally diagnosed with autistic disorder.
This gene is a member of the SCC3 family and encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase.
Type of Disorder
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.