Gene/phenotype/disorder of interest
CTR9 (OMIM 609366)
Abstract
CTR9-related neurodevelopmental disorder (CTR9-NDD) was recently identified by our group, yet its clinical spectrum and molecular mechanisms remain largely unknown. Since the initial publication, we have been contacted by a growing number of parents and clinicians worldwide seeking prognostic information, clinical guidance, and participation in a follow-up cohort study, highlighting the urgent need for systematic data collection. We are establishing an international cohort to comprehensively characterize the clinical, behavioural, neuroimaging, and molecular features of CTR9-NDD. The study combines deep phenotyping with AI-assisted facial analysis, genome-wide DNA methylation profiling, and functional studies to improve diagnosis, variant interpretation, and patient care.
Through this ERN ITHACA call, we invite clinicians and researchers caring for individuals with CTR9 variants causing an neurodevelopmental delay, to share clinical data, clinical pictures, blood or DNA samples, neuroimaging data, and/or fibroblast cell cultures. Participation does not require contribution of all data types; partial datasets are welcome and highly valuable.
Coordinating clinician
Marije Meuwissen; marije.meuwissen@uza.be
Contact person
Lusine Harutyunyan; lusine.harutyunyan@uantwerpen.be
Institution
Centre Medical Genetics, University Hospital Antwerp, Antwerp, Belgium
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: Y
- Resampling of patients: Y (skin biopsy, if possible)
- Linked to a translational/basic research project? Y