Only a few patients with mutations in DEAF1 have currently been reported in the medical literature. Therefore, the full clinical spectrum of the syndrome is still unknown, hampering the counseling of families and optimal management of the patients.
The overall aims of our research are:
- to identify additional patients with mutations in DEAF1
- to characterize the clinical spectrum of the syndrome
- to provide insights into the pathogenic mechanism of DEAF1-related intellectual disability
Besides clinical studies we are developing:
- animal models (zebrafish, mouse)
- RNA expression studies
- function of the mutated DEAF1 protein
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 DEAF1 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
- Enter the clinical information using the submission interface
- E-mail photographs to anneke.vulto-vansilfhout@radboudumc.nl
- Send, e-mail or fax the consent form to anneke.vulto-vansilfhout@radboudumc.nl
Anneke Vulto-van Silfhout, M.D. and Bert de Vries, M.D., Ph.D.
Radboud University Medical Centre
Department of Human Genetics, 836
Postbox 9101 6500 HB Nijmegen, the Netherlands
E-mail: anneke.vulto-vansilfhout@radboudumc.nl or bert.devries@radboudumc.nl
Tel: +31 24 361 3946
Any additional questions or enquiries should be directed to anneke.vulto-vansilfhout@radboudumc.nl