DEAF1 autosomal dominant

Research collaboration

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:

  1. to identify additional patients with mutations in DEAF1
  2. to characterize the clinical spectrum of the syndrome
  3. 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 spectrum associated with DEAF1 mutations. Clinicians can submit clinical data directly into this website’s database.

Instructions for the clinician involved:

  1. Please request written consent for the use and storage of medical information with or without photographs
  2. Enter the clinical information using the submission interface
  3. E-mail photographs to
  4. Send, e-mail or fax the consent form to

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: or
Tel: +31 24 361 3946

Any additional questions or enquiries should be directed to