This website provides information on patients with mutations in the POGZ gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the POGZ gene is called White-Sutton syndrome (WHSUS) (OMIM: #616364). It is a multisystem disorder characterized by developmental delay/intellectual disability, autism spectrum disorders, microcephaly, tendency to obesity, feeding and/or gastro-intestinal problems, and vision problems. Not all individuals with a mutation in the POGZ gene share all 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 POGZ gene.
Marjolein Willemsen, MD, PhD, clinical geneticist, Radboudumc, Nijmegen, The Netherlands, Marjolein.firstname.lastname@example.org
Evan Eichler, PhD, human geneticist, Genome Sciences, University of Washington, Seattle, USA, email@example.com