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 |
