Closed
Targeted gene under study
BICRA (OMIM #605690), Coffin-Siris Syndrome 12 (OMIM #619325)
Abstract
We previously described a neurodevelopmental disorder caused by heterozygous variants in BICRA (PMID: 33232675). We have since expanded our cohort, and are looking for additional affected individuals to further delineate the clinical phenotype and to perform functional studies, including episignature development. We are also interested in individuals harboring heterozygous variants in the BICRA homologue BICRAL.
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