Targeted gene(s)/phenotype under study
Gene: SF1 variants (OMIM# 601516)
SF1 codes for Splicing Factor 1, a nuclear pre-mRNA splicing factor. It is involved in the ATP-dependent formation of the spliceosome complex. Its role in human physiology is poorly understood and has not been reported yet in pathology.
Through international collaborations, we have already collected 7 cases carrying de novo SF1 truncating variants or variants affecting highly conserved domains of the protein. All these patients share developmental disorder / intellectual disability associated with some specific clinical features such as enophtalmos and limbs anomalies (nails hypoplasia, broad thumbs).
We now would like to enrich our cohort with some additional cases to better delineate the SF1-related neurodevelopmental disorder and proceed to functional validation.
- Thomas Courtin
- Cyril Mignot
Service de Génétique Médicale
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : N0
- Resampling of patients : Yes
- Linked to a translational/basic research project? Yes