Thus far, mutations in SMARCA4 have mainly been described in patients with Coffin-Siris syndrome (CSS).

Clinical characteristics

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 SMARCA4 mutations.

Molecular characteristics

All of the Coffin-Siris syndrome (CSS)/intellectual disability (ID) mutations are non-truncating mutations, which means that an altered protein is produced, being most likely responsible for the phenotype of the affected individual.