Goals

1) to characterize the clinical spectrum of the syndrome
2) to provide insights into cause of the syndrome
3) to explore possibilities for treatment.

Latest Publications:

Research

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:

  1. Please provide study information to the parents/guardians
  2. 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
  3. E-mail photographs to david.koolen@radboudumc.nl  
  4. 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
    Postbox 9101
    6500 HB Nijmegen, the Netherlands
    E-mail: david.koolen@radboudumc.nl 
    Fax: +31 24 361 3946

    Any additional questions or enquiries should be directed to David A Koolen. Contact