The full clinical spectrum of these mutations cannot yet be assessed because of ascertainment bias and the low number of patients described. 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 SMARCA4
- 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 of SMARCA4 mutations, and if possible (3) DNA of patients with SMARCA4 mutations.
A collection of DNA of SMARCA4 patients may be helpful to determine modifiers of the SMARCA4 phenotype, as the clinical spectrum seems to be very wide.
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.