Table 1.
Clinical findings | Proband A | Proband B | Proband C | Proband D | Proband E | Proband F | Proband G | Proband H | Proband I | Proband J | Proband K | Proband L |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Sex | Female | Male | Female | Female | Male | Female | Female | Female | Female | Male | Female | Male |
Age at last examination (years) | 3 9/12 | 13 | 6 3/12 | 8 | 17 | 14 | 14 2/12 | 8 | 6 1/12 | 4 8/12 | 6 5/12 | 4 8/12 |
Intellectual disability | + | + | + | + | + | + | + | + | + | + | + | + |
Age of first words (years) | 1 8/12 | 4 | – | – | – | – | – | – | – | – | – | – |
Speech ability | 20 words | 4 words | non-verbal | non-verbal | non-verbal | non-verbal | non-verbal | non-verbal | non-verbal | non-verbal | non-verbal | non-verbal |
Motor development delay | + | + | + | + | + | + | + | + | + | + | + | + |
Muscular hypotonia | + | + | + | + | + | + | + | + | + | + | + | + |
Age of walking (years) | 2 8/12 | 6 | – | – | 6 | – | 3 | – | – | – | 5 | 8 |
Gait abnormalities | ataxic | ataxic | no independent walking | no independent walking | ataxic; only short distances independent | no independent walking | ataxic | no independent walking | no independent walking | no independent walking | ataxic | ataxic |
Autistic features | + | – | + | – | + | + | + | – | + | – | + | – |
Sleep disturbance | + | + | + | + | – | – | + | + | + | – | – | – |
Seizures | + | – | – | + | – | – | – | – | + | – | – | – |
Feeding difficulties | + | + | – | – | + | + | + | + | + | + | – | + |
Strabismus | + | – | + | – | – | – | – | – | + | + | + | + |
Joint hypermobility | + | – | + | – | + | + | – | – | + | – | + | – |
Cerebral MRI anomalies | – | – | – | delayed myelination, cerebellar atrophy, enlarged ventricles | cortical atrophy, dilated ventricles | mild cerebral atrophy | delayed myelination | cerebral atrophy, delayed myelination, dilated ventricles | cerebral atrophy | delayed myelination, dilated ventricles, corpus callosal abnormalities | delayed myelination, cerebellar atrophy, dilated ventricles | delayed myelination, cerebellar atrophy, dilated ventricles |
DHX30 alteration | c.1478G>A p.Arg493His | c.1478G>A p.Arg493His | c.1685A>G p.His562Arg | c.2342G>A p.Gly781Asp | c.2342G>A p.Gly781Asp | c.2344C>T p.Arg782Trp | c.2344C>T p.Arg782Trp | c.2344C>T p.Arg782Trp | c.2353C>T p.Arg785Cys | c.2353C>T p.Arg785Cys | c.2353C>T p.Arg785Cys | c.2354G>A p.Arg785His |
+, present; –, absent;