Targeted gene(s)/phenotype under study :
- Gene: FOSL2
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:
- Pr Koen DEVRIENDT
- Dr Laurent PASQUIER
Herestraat 49, 3000
2 rue Henri Le Guilloux
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