Table 1.
Clinical Characteristics of Individuals with De Novo CHAMP1 Mutations Presented Here
| Individual A:II-1 | Individual B:II-3 | Individual C:II-2 | Individual D:II-2 | Individual E:II-2 | |
|---|---|---|---|---|---|
| Sex | male | male | male | female | female |
| Birth at gestational week | 40 | 39 | 39 | 37 | 40 |
| Birth weight (g/SD) | 3,520/−0.4 | 3,580/+0.2 | 3,100/−0.9 | 3,105/+0.3 | 4,100/+1.5 |
| Birth length (cm/SD) | 52/−0.2 | ND | 49/−1.3 | 50/+1.0 | 53/+0.6 |
| OFC at birth (cm/SD) | 33/−2.0 | ND | 35.6/−2.1 (age 6 weeks) |
29.5/−3.1 | 35/−0.4 (age 4 weeks) |
| Age at last examination (years) | 4 | 3 | 18 | 3 | 8 |
| Weight at last examination (kg/SD) |
16.3/+0.2 | 14.7/0 | 50/−2.7 | 14.7/−0.1 | 45.5/+3.3 |
| Length at last examination (cm/SD) |
111.5/+0.7 | 86/−2.2 | 160/−2.9 | 93.5/−0.9 | 139/+0.6 |
| OFC at last examination (cm/SD) |
48/−2.5 | 47.3/−1.5 | 52.2/−3.1 | 45.5/−2.4 | 52/−0.3 |
| Neurological Signs | |||||
| Muscular hypotonia | + | + | + | + | + |
| Motor development delay | + | + | + | + | + |
| Age of walking without support (months) | 48 | 36 | 30 | 18 | 20 |
| Impaired speech development | + | + | + | + | + |
| Dysarthria, speech defect | no speech | no speech | + | + | + |
| Intellectual disability | severe | severe | severe | moderate | moderate |
| Friendly behavior | + | + | + | + | + |
| Craniofacial Abnormalities | |||||
| Orofacial hypotonia | + | − | + | + | + |
| Long face | + | − | + | − | + |
| Epicanthic folds | − | + | − | + | + |
| Upslanting palpebral fissures | − | + | + | − | + |
| Short philtrum | + | + | + | + | + |
| Open-mouth appearance and salivation | + | − | + | + | + |
| Thin and tented upper lip | + | tented (not thin) |
+ | + | + |
| Everted lower lip | + | + | + | + | + |
| High arched palate | + | + | ND | + | + |
| Pointed chin | + | + | − | − | + |
| Low set ears | − | + | + | − | + |
| Other Findings | |||||
| Strabismus | + | − | + | − | − |
| Hyperopia | + | ND | + | + | + |
| Joint hypermobility | + | − | + | − | − |
| Neonatal feeding difficulties | + | + | + | + | − |
| Umbilical hernia | + | + | − | − | − |
| Decreased pain sensation | + | − | + | + | + |
| Recurrent upper air tract infections | − | + | + | + | − |
| Further Explorations | |||||
| Cerebral MRI | mild brain atrophy and cerebellar cortical dysplasia | slightly delayed myelination | normal (age one year) |
normal (age three months) |
normal (age three years) |
| CHAMP1 Mutation | |||||
| Gene mutation, protein alteration | c.1866_1867delCA, p.Asp622Glufs∗8 |
c.1768C>T, p.Gln590∗ |
c.1192C>T, p.Arg398∗ |
c.635delC, p.Pro212Leufs∗7 |
c.1192C>T, p.Arg398∗ |
Abbreviations are as follows: +, present; −, absent; ND, not done