The full clinical spectrum caused by ARID2 mutations is still not completely known. Only a small number of individuals with ARID2 mutations have been described. Therefore assessment of a larger cohort of individuals with ARID2 pathogenic variants is needed to determine whether it causes a phenotype clinically similar to or distinct from Coffin-Siris syndrome. Reasons for this are ascertainment bias, the variability among patients and their young age at diagnosis. This is especially important to keep in mind for patients in which mutations are identified at a very young age.
The overall aims of our research are:
- to identify additional patients with mutations in ARID2
- to characterize the clinical spectrum
For the clinical studies we request (1) clinical and genetic information and/or (2) photographs to obtain a better insight into the clinical variability caused by ARID2 mutations.
Clinicians can submit clinical data directly into the database.
Instructions for the clinician involved:
- Please request written consent for the use and storage of medical information with or without photographs.