A mutation in the ARID2 gene can cause a Coffin-Siris syndrome-like phenotype, but only a small number of individuals with ARID2 mutations have been reported. Therefore an assessment of a larger cohort of individuals with ARID2 pathogenic variants is needed to determine whether a mutation in this gene leads to a phenotype that is clinically similar to or distinct from Coffin-Siris syndrome.
Clinical features
All patients with ARID2 mutations identified so far have intellectual disability, developmental delay and most display hypotonia, behavioural abnormalities, and distinct facial features. Also, see under “Clinical characteristics“.
Inheritance
ARID2 is one of the genes associated with a Coffin-Siris syndrome-like phenotype and intellectual disability. Mutations are inherited in an autosomal dominant manner.