This website provides information on patients with mutations in the ARID1A gene, including clinical data, molecular data, management and research options.
A mutation in the ARID1A gene can cause Coffin Siris Syndrome. Frequently identified features are intellectual disability, feeding difficulties, coarse facial features, speech delay, small or absent fifth finger or toe nail(s) and hypertrichosis. Not all individuals with a mutation in the ARID1A gene have these features. Thus far only a few patients with a mutation in ARID1A have been described and exclusively in association with CSS. Therefore, more patient data is needed to examine the phenotype of patients with an ARID1A mutation in more detail and to identify the consequences of these mutations with a higher precision.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ARID1A gene.
We invite clinicians who have identified a mutation in ARID1A in a patient to submit their data to the database. Please contact us if you would like to add the clinical phenotype of your patient to this database.
Gijs Santen, departement of clinical genetics, Leiden, the Netherlands, G.W.E.Santen@lumc.nl