Targeted gene(s)/phenotype under study :
- Gene: CNOT3 (OMIM #618672)
We are currently working on patients with CNOT3 variants (class 4-5). The cohort has between 15-20 patients for now. We would like to gather as many individuals as possible (of all age and with de novo or inherited variant) in order to have a better understanding of the phenotypic spectrum associated to this pathology.
In early February we will assess the number of patients that could be included. This will give us an idea of what may be done afterward. So, if you follow a patient with this pathology and are interest, we will be glad to work with you.
Coordinating clinicians /researchers:
- Dr Juliette Piard
Centre de Génétique Humaine
CHRU Jean Minjoz
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