Targeted syndrome under study:
Weaver syndrome (OMIM # 277590)
Abstract
EZH2-related overgrowth also known as Weaver syndrome, is an overgrowth syndrome characterized by tall stature, macrocephaly, specific facial traits and frequent intellectual disability. It is a rare disease and around 60 patients have been described in the litterature for the moment.
We are gathering a new cohort of patients with EZH2-related overgrowth in order to learn more about the plurality of this syndrom and explore the phenotype-genotype relationship
Coordinating clinicians
Dr VINCENT-DEVULDER Aline, MD, Hospital University of Caen, France – garin-t@chu-caen.fr
GARIN Thaïs, resident doctor, Hospital University of Caen, France – vincent-al@chu-caen.fr
Service de Génétique, CHU de Caen, Caen
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes