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 | |