This website provides information on patients with mutations in the ARID1B gene, including clinical data, molecular data, management and research options.
A mutation in the ARID1B gene can cause Coffin Siris Syndrome, but can also lead to non-syndromic intellectual disability.
The aim of this website is to collect information on patients with Coffin-Siris syndrome and/or intellectual disability. Frequently identified features in CSS are intellectual disability, speech and motor delay, feeding difficulties, coarse facial features, small or absent fifth finger or toe nail(s) and hypertrichosis. Not all individuals with a mutation in the ARID1B gene have these features. More patient data is needed to examine the phenotype of patients with an ARID1B 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 ARID1B gene.
We invite clinicians who have identified a mutation in ARID1B in a patient to submit their data to the database.
Gijs Santen, MD, PhD, Department of Clinical Genetics, LUMC, Leiden, The Netherlands, G.W.E.Santen@lumc.nl