Description of long-term cardiological manifestations in patients with mutations in the SKI gene (Shprintzen-Goldberg syndrome and related diseases)

Targeted gene(s)/phenotype under study :

  • Gene: SKI

Abstract :

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

Institution :

Genetic Center, CHU, Dijon, France

Contact : 


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