Table 2.
Psychiatric characteristics of patients with NRXN1 SNVs and summary of functional analyses
| Variant | T737M | T737M | D772G | R856W |
|---|---|---|---|---|
| Gender | M | F | M | F |
| Inheritance | Maternal | Unknown | Maternal | Maternal |
| Age of evaluation (years) | 32 | 68 | 9 | 40 |
| Age at psychosis onset (years) | – | 25 | – | 19 |
| Educational years | 16 | 12 | 3 | 12 |
| Marital status | Unmarried | Married with one healthy daughter and two grandchildren | – | Unmarried |
| Occupation | Desk work with special support | Housewife, part-time worker | Elementary school student (special needs) | – |
| Hospitalizations | – | – | – | 21 years (since her onset) |
| Neuropsychiatric comorbidity | FIQ 116, depression, ADHD | - | ID, ODD | Treatment-resistant cognitive deficit with continuous delusions |
| GAF score of evaluation | 66 | 72 | 33 | 22 |
| GAF score of lowest ever | 35 | 32 | 8 | 1 |
| Cell surface expression | → | ↓ | ↓ | |
| Interaction with NLGN1 | ↓ | ↓ | → | |
| Synaptogenic activity | ↑ | → | → | |
| Destabilization score of NRXN1 L-shape | 1.32 | 1.93 | 0.02 | |
ASD autism spectrum disorders, SCZ schizophrenia, M male, F female