Table 4.
Clinical characteristics of published and novel SPATA5 patients
| Patient from our diagnostic cohort | This study ID 73068 |
This study ID 47651 |
Tanaka et al.36 14 patients |
Kurata et al.37 3 patients |
Buchert et al.38 8 patients |
Szczauba et al.39 2 patients |
Puusepp et al.40 5 patients |
Summary of all 35 patients | |
|---|---|---|---|---|---|---|---|---|---|
| Variants | HO (UPD) | CH | CH | 13 CH, 1 HO | 3 CH | 1 CH, 7 HO of one family | 2 CH | 5 CH | 26 CH, 9 HO |
| Age | 30 y | 5 y 7 m | 13 y | 2 y – 19 y | 1 y – 4 y 7 m | 1 y 5 m – 41 y | 4 y, 10 m | 3 y - 9 y | 10 m – 41 y |
| Sex | Female | Male | Male | 8 female, 6 male | 1 female, 2 male | 3 female, 5 male | 2 female | 3 female, 2 male | 18 female, 17 male |
| Microcephaly | + | + | - | 12/13 | +, -, + | 7/8 | -, - | 5/5 | 28 (80%) |
| Moderate/severe ID | + | + | + | 14/14 | +, + , + | 8/8 | + , too young* | 5/5 | 34 (97%) |
| Seizures | + | + | + | 13/14 | +, + , + | 1/8 | +, - | 5/5 | 26 (74%) |
| Hearing loss | + | + | - | 14/14 | +, + , + | 4/8 | + , + | 5/5 | 30 (86%) |
| Hypotonia | + | - | - | 13/14 | -, +, - | 4/8 | +, + | 2/5 | 23 (66%) |
| Spasticity | + | + | + | 9/14 | +, -, + | - | -, - | 5/5 | 19 (54%) |
| Visual impairment | + | + | + | 13/13 | +, NA, NA | 3/8 | -, - | 3/5 | 23 (66%) |
| Speech | No word | No word | No word |
No word 12/13 one word 1/13 |
No word (3/3) | Very limited |
No word 1/2 too young 1/2 |
No words | No words or few words |
| Motor development | Head control, sitting | No head control | No head control |
No sitting 11/12 sitting at 3 y 1/12 |
No head control 3/3 |
No sitting 1/8 delayed sitting and walking 7/8 |
Head control 2/2 no sitting 1/2 slightly delayed 1/2 |
No head control 2/5 no sitting 4/5 walking few steps 1/5 |
No head control – delayed walking |
| MRI anomalies | NA | Hypomyelination, progressive atrophy | Cerebral atrophy, hypomyelination, thin corpus callosum |
Atrophy 2/12 hypomyelination 3/12 thin corpus callosum 2/12 |
Cerebral atrophy 2/3 delayed myelination 3/3 thin corpus callosum 3/3 |
Cerebral atrophy 1/4 | -, NA |
Atrophy 4/5 delayed myelination 3/5 thin corpus callosum 1/5 |
Atrophy, delayed myelination, thin corpus callosum |
| EEG | NA | Abnormal | Abnormal | Abnormal 14/14 | Abnormal 3/3 | Abnormal 2/2 | Abnormal 1/2 | Abnormal 5/5 |
*Patient too young for proper assessment but shows hypotonia and significant delay of motor development
CH compound heterozygous, EEG electroencephalogram, HO homozygous, ID intellectual disability, m months, MRI magnetic resonance imaging, NA not available, UPD uniparental disomy, y years