Gene/phenotype/disorder under study
EZH2 (OMIM 601573)/Weaver Syndrome (OMIM 277590) and EED (OMIM 605984)/Cohen-Gibson Syndrome (OMIM 617561)
Abstract
The PRC2 complex plays an essential role in regulating chromatin structure and acts as an important regulator of cell development and differentiation during embryogenesis (Imagawa et al., 2017). PRC2 complex related overgrowth syndromes include Weaver syndrome and EED-related overgrowth, conditions due in majority of the cases to point mutations in the EZH2 and EED genes respectively (Gibson et al, 2012; Cohen&Gibson, 2016). In these patients, a distinct episignature has been identified (Choufani et al, 2020). A growing subset of syndromic patients has deletions over EZH2 and EED respectively but their clinical phenotype and episignature appear different from the established ones. We are looking to characterize the clinical phenotypes of patients with EZH2 and EED deletions, as well as the episignature of this subset of patients.
Coordinating clinicians
Dr. Oana Caluseriu – caluseri@ualberta.ca
Dr. William Gibson – wtgibson@bcchr.ca
Dr. Rosanna Weksberg – rweksb@sickkids.ca
Institutions
Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Department of Paediatrics, The Hospital for Sick Children, University of Toronto, ON, Canada
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes (DNA methylation analysis)
2- Resampling of patients: Yes (If DNA concentration not optimal)
3- Linked to a translational/basic research project: Yes/No