Rare 22q11 deletion CNVs carry elevated risk for ID, autism, and schizophrenia. Individuals with 22q11 hemi-deletions were recruited from Danish clinical and register sources. 22q11 status was independently confirmed. All subjects have GWA genotyping, CNVs, WES, IQ, and extensive psychopathology phenotyping (diagnostic and symptom-level). Increasing proportions have EEG, MRI, metabolomics, RNA-seq, and 3D facial imaging.
Moreover, as part of IMI NEWMEDS, LE Lundbeck partners made a mouse model of 22q11 deletion. As pilot data for COSYN, Prof Verhage and SME Sylics worked with Lundbeck to characterize these mice using automated, home cage behavioural phenotyping. We have been using mouse neurons and collecting source cells from 22q11 carriers since day 1 of COSYN.