Table 2 Clinical findings of patients with variants in the WSB2 gene.
Patient # | 1 | 2 | 3 | 4 | 5 |
|---|---|---|---|---|---|
Sex | Female | Female | Male | Female | Female |
Ethnicity | Middle Eastern | Amish/Mennonite | Ashkenazi Jew | Ashkenazi Jew | Emirati |
Current age | 4 years, 4 mo | 3 years | 13 years | 9 years | 12 years, 7 mo |
GA at birth | 36 weeks, 6 days | 36 weeks, 6 days | 39 weeks, 2 days | 39 weeks, 5 days | Full term |
Birth weight(with percentiles or z-score) | 1.87 kg (<1%ile, z-score: −2.42) | 2.09 kg (3.1%ile, z-score: −1.87) | 3.0 kg (23.6%ile, z-score: −0.72) | 2.926 kg (21.4%ile, z-score: −0.79) | 2.3 kg (<1%ile, z-score: −2.48) |
Birth length | 43 cm (1.0%ile, z-score: −2.32) | 41 cm (<1%ile, z-score: −3.21) | Not available | Not available | Not available |
OFC birth | 29 cm (<1%ile, z-score: −2.85) | 29.5 cm (<1%ile, z-score: −2.50) | 33 cm (18.6%ile, z-score: −0.89) | 33 cm (26.7%ile, z-score: −0.62) | Not available |
Neonatal complications | IUGR | IUGR | – | – | Oligohydramnios |
Hypotonia | +, generalized | +, severe | + | Not available | +, severe |
GDD/ID (IQ) | GDD | GDD | GDD/ID (IQ 46) | GDD/ID (IQ NA) | GDD |
MRI findings | Severe microcephaly, Brain with under sulcation and gyration | Microcephaly Callosal hypogenesis Pachygyria and white matter hypomyelination Small olfactory bulbs, optic nerves, and hippocampi Tectal dysplasia Severe cerebellar hypoplasia and atrophy | Normal brain MRI at 6.5 yrs; hypoplasia of vermis at 11 yrs | Normal brain MRI at 3 yrs | Microcephaly, cerebellar hypoplasia, thin corpus callosum, and anterior horn cell disease |
Seizures | +, started at age of 1.5 yrs, now free of seizure and not on medication | – | +, started at age 10 yrs and responded to treatment | – | +, started at 6 yrs, controlled with keppra and lamotrigine |
Behavior abnormalities | Hand stereotypies | – | Autism | Autism, ADHD | movement disorder with near constant choreiform movements |
Others | Proteinuria | – | Abnormal gait, joint hyperlaxity; EMG: motor neuron dysfunction | Joint hyperlaxity | Wenckebach second-degree heart block |
