Targeted gene(s)/phenotype under study
We have identified several patients with a de novo variation in CELF4 with neurodevelopmental disorders (intellectual disability, epilepsy, language delay), overweight/obesity, and non-specific morphological features. Only one family with a deletion carrying CELF4 has been published (PMID 28407444). We would like to recruit more patients to better describe the phenotype. Clinicians who identify a patient with a de novo variant (SNV or CNV) in the CELF4 gene are invited to contact us.
Ange-Line Bruel, CHU Dijon, 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