A mutation in the ARID2 gene can cause a Coffin-Siris syndrome-like phenotype. However, only a small number of ARID2 patients have been reported. Therefore assessment of a larger cohort of individuals with ARID2 pathogenic variants is needed to obtain a more complete overview of the clinical characteristics of patients with ARID2 mutations.
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“.
ARID2 is one of the genes associated with a Coffin-Siris syndrome-like phenotype and intellectual disability.