Table 1 CHAMP1 variants and clinical presentation.
From: Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
Patients | Sex | Mutation | Muscle hypotonia | Microcephaly | Delay in walking (>18m) | Impaired speech development | Eye anomalies | Brain MRI | Seizure | Abnormal behavior | Dysmorphic facial features | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | c.542_543delCT p.Ser181* | − | + | + | + | Strabismus | N/A | Febrile seizures | Skin-picking, rituals, food-foraging | N/A | Tanaka et al.2 |
2 | F | c.635delC p. Pro212* | + | + | − | + | Hyperopia, astigmatism | Normal | − | Friendly, hand stereotypy, tacle hypersensitivity, sexual self-stimulation | + | Hempel et al.1 |
3 | F | c.958_959delCC, p.Pro320* | N/A | − | + | + | N/A | non specific patchy signal abnormalities in right parieto-occipital subcortical white matter, bulky corpus callosum autistic behavior | − | + | + | Isdor et al.3 |
4 | M | c.1002G>A p.Trp334* | N/A | − | + | + | Hyperopia, strabismus | Normal | − | - | − | Isdor et al.3 |
5 | F | c.1043G>A, p.Trp348* | N/A | + | + | + | Hyperopia, astigmatism | thickening of the corpus callosum, subtle hypoplasia of the left temporal lobe | − | + | + | Isdor et al.3 |
6 | F | c.1044delG p.Trp348* | + | + | − | + | − | Hypoplastic corpus callosum | − | Aggressive, occasionally self injurious | N/A | Tanaka et al.2 |
7 | M | c.1192C>T p.Arg398* | + | + | + | + | Strabismus, hyperopia | Normal | − | Friendly | + | Hempel et al.1 |
8 | F | c.1192C>T p.Arg398* | + | − | − | + | Hyperopia, astigmatism | Normal | − | Friendly | + | Hempel et al.1 |
9 | F | c.1465C>T, p.Gln489* | − | + | + | + | − | mild atrophy of the cerebrum and cerebellum | − | Friendly | − | This case |
10 | F | c.1489C>T, p.Arg497* | N/A | − | + | + | Amblyopia | N/A | N/A | − | + | Isdor et al.3 |
11 | M | c.1768C>T p.Gln590* | + | + | + | + | Impaired | delayed myelination | Fromtotemporal epilepsy | Hand stereotypy, friendly | + | Hempel et al.1 |
12 | M | c.1866_1867delCA p.Asp622* | + | + | + | + | Strabismus, hyperopia | Mild brain atrophy and cerebellar cortical dysplasia | − | Hand stereotypy, friendly | + | Hempel et al.1 |
13 | F | c.1876_1877delAG; p.Ser626* | N/A | + | + | + | Hyperopia, astigmatism | arachnoid cyst | + | + | + | Isdor et al.3 |
14 | M | c.1880C>G p.Ser627* | N/A | + | + | + | Hyperopia, astigmatism, strabismus | Normal | − | − | + | Isdor et al.3 |
15 | F | c.1945C>T p.Gln649* | + | − | + | + | Ocuular albinism | Normal | − | ADD/ADHD | N/A | Tanaka et al.2 |
16 | F | c.1969C>T p.Gln657* | + | + | + | + | Strabismus | Mild decreased white matter | Seizure at 3 yo | Inapropriate laughter | N/A | Tanaka et al.2 |
17 | F | c.2029G>T p.Glu677* | + | + | + | + | Strabismus | Mild cerebellar atrophy | − | Hyperactivity | N/A | Tanaka et al.2 |
