Targeted gene(s)/phenotype under study :
- Gene: MEF2C (MIM #613443: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations)
The MEF2C gene encodes a transcription factor known to play a crucial role in molecular pathways affecting neuronal development. MEF2C haploinsufficiency has been described in the literature over the past decade, with the majority of patients harbouring 5q14.3 microdeletions. Consecutively, point mutations of MEF2C were identified in patients with neurodevelopmental disorders and epilepsy, describing the new MEF2C-related syndrome.
The objective of our work is to collect a cohort of patients with MEF2C mutations to better characterise the associated phenotypic spectrum, specify genotype-phenotype correlations, and propose clinically relevant follow-up recommendations.
Coordinating clinicians /researchers:
- Dr Guillaume Jouret
National Center of Genetics (NCG)
Laboratoire National de Santé (LNS)
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No (or in a second phase, depending on the success of the cohort study)
- Resampling of patients: No (or in a second phase, depending on the success of the cohort study)
- Linked to a translational/basic research project? No (or in a second phase, depending on the success of the cohort study)