Targeted gene(s)/phenotype under study

Gene: SKI


The SKI gene is responsible for Shprintzen-Goldberg syndrome and related syndromes with or without intellectual disability. Mutations in the SKI gene are responsible for a genetic predisposition to aortic dilatation. It is important to clarify the cardiological phenotype of these patients over the longer term. The involvement of this gene is very rare, only international collaborations will allow to better describe this evolution. If you are interested in participating in this study, the proposed cardiological follow-up form is downloadable here.

Coordinating clinicians/researchers 

Pr Laurence Faivre



Genetic Center, CHU, Dijon, France

Specific requirements beyond clinical data and genotype data sharing

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: No