Targeted gene(s)/phenotype under study
- Gene: EEF1A2 (OMIM # 602959)
- Phenotype: intellectual disability, epileptic encephalopathy
Abstract
EEF1A2 gene, encodes eukaryotic translation elongation factor 1 (eEF1A)-alpha 2, a protein mainly expressed in neurons and muscle and playing a key role in protein synthesis, apoptosis suppression and cytoskeletal regulation. Up to know, around 30 patients have been reported in literature with EEF1A2 variants. Patients are reported with early epilepsy, global developmental delay evolving to severe to profound intellectual disability, autistic behaviour and dysmorphic features. Affected individuals are often nonverbal and nonambulatory. We have identified two patients with EEF1A2 variants and a mild mental retardation without epilepsy. We would like to collect other patients with a mild delay to extend phenotype of EEF1A2 variants.
Coordinating clinicians /researchers
Dr Lyse Ruaud
Contact:
Institution
Clinical Genetics Departement
Robert Debré University Hospital
75019 Paris
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