Table 2. Clinical features of patients with deletions or duplications above 100 kb involving the IQSEC2 gene.
| Ref. | Fieremans et al.33 | Moey et al.34 | Moey et al.34 | Moey et al.34 | Moey et al.34 | Froyen et al.35 | Froyen et al.35 | Froyen et al.35 Gedeon et al.36 | Froyen et al.37 | Froyen et al.37 | Froyen et al.37 | Froyen et al.37 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | A119 | A057 | A009/MRX17 | ON1 | AU88848 | FTD | F538 | ||
| Mutation | 400-kb del | 361-kb dup | 403-kb.dup | 579-kb dup | 1.141-kb dup | 837-kb dup | 725-kb dup | 762-kb dup | 730-kb dup | 931 kb dup | 1038 kb dup | 1032 kb dup |
| Gender | 1 F | 1 M | 1 M | 1 M | 1 M | 2 M | 2 M | 1 M | 1 M | 2 M | 1 M | 2 M |
| Microcephaly | − | − | − | − | + | − | ± | − | − | NR | − | − |
| Motor development | − | Delay | Delay | Delay | Delay | Delay | No delay | − | Delay | NR | Delay | − |
| Intellectual disability | Severe | NR | Moderate | Moderate | Moderate | Moderate | Moderate | Mild | Moderate | Mild | Mild | Moderate |
| Language development | Not acquired | Delay | No delay | Delay | Delay | Delay | Delay | NA | Delay | NR | Delay | Delay |
| Seizures | − | − | − | − | + | + | − | NA | − | NR | − | − |
| Behavioral disturbances | ASD | + | ASD | + | + | ADHD | + | NA | ADHD | NR | ADHD | − |
| Schizophrenia | − | − | − | − | − | − | − | NA | − | NR | − | − |
| Strabismus | + | − | − | − | − | − | − | NA | − | NR | − | − |
| Stereotypies | − | − | − | − | − | − | − | NA | − | NR | − | − |
Abbreviations: ASD, autistic spectrum disorder; ADHD, attention-deficit hyperactivity disorder; del, deletion; dup, duplication; F, female; M, male; NA, not available; NR, not reported.