FOREIGN (FOSL2-related signs)

Targeted gene(s)/phenotype under study :

  • Gene: FOSL2 

Abstract :

We would like better delineate the clinical spectrum and natural history of a new syndrome linked to the FOSL2 This new phenotype is characterised by specific morphological anomalies, growth retardation and a neurodevelopmental disorder.

In the 5 cases already identified throughout Europe, a de novo variation was found out in a coding region of the FOSL2 gene (NM_005253.3).

Coordinating clinicians /researchers: 

  • Dr Laurent PASQUIER

Institution :

UZ Leuven

Herestraat 49, 3000

Leuven, Belgium


CHU Rennes

2 rue Henri Le Guilloux

Rennes, France

Contact : 

Specific requirements beyond clinical data and genotype data sharing:

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