Closed
Targeted gene under study
YIF1B (OMIM #619109) Kaya-Barakat-Masson syndrome (OMIM #619125)
Abstract
We previously described a severe neurodevelopmental disorder caused by bi-allelic variants in YIF1B (PMID: 32006098, PMID: 34373908). Since then, we have continued to study this new rare syndrome using clinical and functional studies. We are calling for additional affected individuals for our clinical studies, and would also be very interested in affected individuals willing to donate cells for induced pluripotent stem cell based studies.
Coordinating clinicians/researchers
Dr. Stefan Barakat – t.barakat@erasmusmc.nl
Institution
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
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: Yes