General information

Thus far, mutations in ARID1A have only been described in patients with Coffin-Siris syndrome. This syndrome is mainly recognized through the combination of intellectual disability, facial features and small fingernails and/or short fifth fingers. However, because of the increased uptake of genetic screening, mutations are now also identified in patients who do not appear to have the clinical features associated with this syndrome. Therefore it is important to collect as many information as possible, so we can gain more information on which features are truly associated with ARID1A mutations.

Most of the mutations are truncating mutations, which means that not enough protein is produced. All of such mutations have been new in the patient and are not identified in their parents. We do not yet know if other types of mutations also cause developmental disease.