Together with our colleborators at the Department of Genome Sciences, University of Washington, Seattle, we initiated several projects related to the KdVS.
The overall aims of our research are:
1) to characterize the clinical spectrum of the syndrome
2) to provide insights into the molecular effects of the 17q21.31 deletion / KANSL1 mutation
3) to explore possibilities for treatment.
Besides clinical studies we have two animal model systems. Our collaborator, Yann Herault (IGBMC, Illkirch, France) developed a 17q21.31 deletion mouse model and additionally Annette Schenck and Jamie Kramer (Nijmegen, the Netherlands) developed a Drosophila mutant of the KANSL1 orthologue, wah.
For the clinical studies we ask for (1) clinical information and/or (2) medical photographs to obtain a better insight into the clinical variability of the KdVS. Parents can sumbit clinical data directly via the clinical survey.
Instructions for the clinician involved:
- Please provide study information to the parents/guardians
- Request written consent (see form) for:
The use and storage of medical information with or without photographs
Enter the clinical information using the submission interface
- E-mail photographs to firstname.lastname@example.org
- Send, e-mail or fax the consent form to:
David A Koolen, M.D., Ph.D.
Radboud university medical center
Department of Human Genetics, 849
6500 HB Nijmegen, the Netherlands
Fax: +31 24 361 3946
Any additional questions or enquiries should be directed to David A Koolen. Contact