Only a few patients with POC5 variants 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 POC5 variants
to characterize the clinical spectrum of the syndrome
to provide insights into the pathogenic mechanism of POC5 variants
Besides clinical studies we are developing:
Cilia studies in fibroblasts
Adipocyt studies
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 POC5 variants. Clinicians can submit clinical data directly into this website’s 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., 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
Tel: +31 24 361 3946
Any additional questions or enquiries should be directed to anneke.vulto-vansilfhout@radboudumc.nl
POC5