Table 1.
Comparing the clinical and radiological findings in patients with DDX3X variants in the literature
| Snijders Blok et al. (2015) | Dikow et al. (2017) | Kellaris et al. (2018) | Nicola et al. (2019) | Scala et al. (2019) | Okano et al. (2020) | This study | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| patient 1 | patient 2 | patient 1 | patient 2 | patient 1 | patient 2 | patient 3 | patient 1 | patient 1 | patient 1 | ||
| Variant | 15 missense/9 frameshift/6 nonsense/4 splice site/1 in-frame | missense c.1703C>T (p.Pro568Leu) | missense c.1600C>G (p.Arg534Gly) | missense c.236G>A (p.Arg79Lys) | missense c.236G>A (p.Arg79Lys) | missense c.1127G>A (p.Arg376His) | missense c.1486G>A (p.Val496Met) | missense c.1702C>T (p.Pro568Ser) | missense c.1511G>Ap.(Gly504Glu) | missense c.1574A > G (p.Tyr525Cys) | missense c.976C>T (p.Arg326Cys) |
| Gender | 35F/3M | F | F | M | M | M | M | M | F | F | F |
| ID/DD | 38/38 (100%) | + | + | + | + | + | + | + | + | + | + |
| Microcephaly | 12/38 (38%) | + | + | − | − | − | − | + | − | − | − |
| Growth retardation | 12/38 (32%) | NA | NA | NA | NA | NA | NA | NA | + | − | − |
| Short stature | NA | + | − | NA | NA | NA | NA | NA | − | − | − |
| Triangular face | + | − | − | − | − | − | − | − | − | + | + |
| Epilepsy | 6/38 (16%) | + | + | NA | NA | NA | NA | NA | NA | NA | − |
| Behavioral problem/autistic features | 20/38 (53%) | − | − | + | − | − | + | + | + | NA | + |
| Hypotonia | 29/38 (76%) | + | + | − | − | + | − | + | − | NA | − |
| Spasticity | 17/38 (45%) | − | − | + | + | + | + | + | + | NA | + |
| Intracranial abnormalities (brain MRI) | |||||||||||
| Polymicrogyria | 4/37 (11%) | − | + | NA | NA | NA | NA | NA | + | − | + |
| Corpus callosum agenesis\hypogenesis | 13/37 (35%) | + | + | + | + | − | − | + | + | − | + |
| Ventricular enlargement | 13/37 (35%) | + | + | + | + | − | − | − | + | + | + |
| Pontine hypoplasia | NA | NA | NA | NA | NA | NA | NA | NA | + | − | + |
| Cerebellar malformations (Dandy-Walker variant) | NA | NA | NA | − | − | − | Posterior fossa cyst | − | − | − | Dandy-Walker malformation |
| Others | |||||||||||
| Hyperlaxity of joints | 14/38 (37%) | + | + | NA | NA | NA | NA | NA | NA | NA | + |
| Scoliosis | 4/38 (11%) | NA | NA | NA | NA | NA | NA | NA | + | NA | + |
| Diaphragmatic hernia | NA | NA | NA | NA | NA | NA | NA | NA | − | NA | + |
ID, intellectual disability; DD, developmental delay; F, female; M, male; +, present; −, absent; NA, not available.