This website provides information on patients with mutations in the YY1 gene, including clinical data, molecular data, management and research options.

The Gabriele-De Vries syndrome (MIM #617557), caused by mutations in the YY1 gene, is a multisystem disorder characterized by cognitive impairment, behavioral alterations, intrauterine growth retardation, feeding problems, and various congenital malformations. Not all individuals with a mutation in the YY1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the YY1 gene.

Michele Gabriele, PhD, MS, Massachusetts Institute of Technology, Massachusetts, USA, micheleg@mit.edu

Anneke T. Vulto-van Silfhout, MD, PhD, Department of Human Genetics Radboud University Medical Center Nijmegen, The Netherlands, Anneke.Vulto-vanSilfhout@radboudumc.nl

David A. Koolen, MD, PhD, Department of Human Genetics Radboud University Medical Center Nijmegen, The Netherlands, David.Koolen@radboudumc.nl

Giuseppe Testa, PhD, Department of Oncology and Hemato-Oncology, University of Milan, 20122, Milan, Italy, giuseppe.testa@ieo.it

Bert B.A. de Vries, MD, PhD, Department of Human Genetics Radboud University Medical Center Nijmegen, The Netherlands, Bert.deVries@radboudumc.nl