Table 1. Clinical features of patients with deletions or duplications below 100 kb involving the IQSEC2 gene.
| Present report | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Ref. | I2 | II2 | II4 | II5 | II6 | III1 | Olson et al.30 | Gandomi et al.31 | Tran Mau-Them et al.5 | Tran Mau-Them et al.5 | Gilissen et al.32 |
| Mutation | g.88032_88033del (NG_021296.1) | c.273_282del | c.2052_2053del | 22-kb dup including exon 3 | 42-kb dup including exon 3–7 | 62 kb insertion of TENM3 sequence | |||||
| Database | ClinVar SCV000245768 | − | − | ClinVar SCV000147968 | ClinVar SCV000245768 | − | |||||
| Gender | F | F | F | M | M | M | 1 F | M | 1 M | 1 M | NR |
| Microcephaly | − | − | − | − | − | + | − | + | + | + | + |
| Motor development | Delay | No delay | Delay | Delay | Delay | Delay | − | Delay | Delay | Regresion | NR |
| Intellectual disability | Mild | Learning disabilities | Mild | Severe | Moderate | Severe | Mild | Severe | Severe | Severe | Severe |
| Language development | Delay | No delay | Delay | Severe | Delay | Delay | Delay | Not acquired | Not acquired | Not acquired | NR |
| Seizures | − | − | − | − | − | − | − | + | + | + | + |
| Behavioral disturbances | − | − | − | − | − | − | − | + | ASD | ASD | NR |
| Schizophrenia | − | − | − | − | − | − | − | − | − | − | NR |
| Strabismus | − | − | − | − | − | − | − | + | + | + | NR |
| Stereotypies | − | − | − | + | − | − | + | + | + | + | NR |
Abbreviations: ASD, autistic spectrum disorder; del, deletion; dup, duplication; F, female; M, male; NR, not reported; Ref., reference.