| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Our fetus 1 (II-2) | Our fetus 2 (II-4) |
---|---|---|---|---|---|---|---|
Narkis et al. 2007 | Narkis et al. 2007 | Narkis et al. 2007 | Narkis et al. 2007 | Narkis et al.2007 | |||
Race | Bedouin | Bedouin | Bedouin | Bedouin | Bedouin | Chinese | Chinese |
Variants | c.757G>A, | c.757G>A | c.757G>A | c.757G>A | c.757G>A | c.688_689del: | c.688_689del: |
 | p.Asp253Asn | p.Asp253Asn | p.Asp253Asn | p.Asp253Asn | p.Asp253Asn | p.G230Qfs*114 | p.G230Qfs*114 |
 | (homozygous) | (homozygous) | (homozygous) | (homozygous) | (homozygous) | c.949_952dup: | c.949_952dup: |
 |  |  |  |  |  | p.S318Ifs*28 | p.S318Ifs*28 |
Clinical findings | Â | Â | Â | Â | Â | Â | Â |
Dyskinesia | + | + | + | + | + | + | + |
Joint contractures | + | + | + | + | + | + | + (stiffness in the limbs, extended knees) |
Hand anomalies | NA | NA | NA | NA | NA | + (flexion contractures of fingers; overlapping fingers) | + (persistently closed hands) |
Talipes equinovarus | NA | NA | NA | NA | NA | + | + |
Brain anomalies | NA | NA | NA | NA | NA | – | + (bilateral dilated lateral ventricles) |
Gestational age at birth | 29Â W | 29Â W | Full term | Full term | Full term | 26Â W | Termination |
Outcome | Died | Died | Died | Died | Died | Died | Â |
Cause of death | respiratory insufficiency | respiratory insufficiency | respiratory insufficiency | respiratory insufficiency | respiratory insufficiency | respiratory insufficiency | Â |