Table 3 Clinical characteristics of 41 patients with PRUNE1 mutations
PRUNE1 mutation | Ethnicity | Age at evaluation | Sex F/M | Birth weight | OFC at birth | Speech disorder | Microcephaly | ID | Spastic quadriplegia | Neuromuscular finding | Seizures | Metabolic profile | Dysphasia | DR | DD | MRI findings | EEG findings | Study |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Homozygous p.(Met1?) | Iranian | 9 yo | F | 3750 cm | NA | Yes | No | No | Yes | Hypotonia | Yes | Unremarkable | Yes | Yes | No | Cerebellar atrophy | NA | This study |
Iranian | 40 yo | M | NA | NA | Yes | No | Yes | Yes | Hypotonia | Yes | Unremarkable | NA | Yes | No | Cerebellar atrophy | NA | ||
Compound heterozygous p.(Asp106Asn) and p.(Cys180*) | Japanese | 12 mo | F | 2802 g | 31.2 cm | NA | NA | Yes | Yes | Hypotonia | No | Unremarkable | NA | NA | Yes | cerebral and cerebellar atrophy, thin corpus callosum, white matter changes, and abnormal signal intensity of the brainstem | Hypsarrhythmia | [30] |
Homozygous (13 patients) p.(Asp30Asn), p.(Pro54Thr), p.(Arg297Trp), p.(Asp106Asn) | Omani, Iranian, Italian and Indian | 0.3 − 21.0 yo | 9 F; 4 M | NA | NA | Yes (13/13) | Yes (13/13) | Yes (13/13) | NA | NA | Yes (6/13) | NA | NA | NA | Yes (13/13) | Delayed myelination (5/13), wide spread white matter hypodensity or abnormalities (4/13), Cerebral/cerebellar atrophy (3/13), thin corpus callosum (2/13) | NA | [1] |
Homozygous (5 patients) p.(Asp30Asn), p.(Asp106Asn), Compound heterozygous p.(Arg128Gln) and p.(Gly174 ∗) | Saudi; Turkish; US | 1.5 − 5.5 yo | 2F, 3 M | NA | NA | Yes (3/5) | Yes (5/5) | Yes (5/5) | Yes (2/5) | Hypotonia (2/5) | NA | NA | NA | NA | Yes (5/5) | Hypomyelination (2/5), Cerebral atrophy (5/5), Cerebellar atrophy (5/5), Thin corpus callosum (5/5) | NA | [3] |
Homozygous (12 patients) p.(Leu172Pro), p.(Asp106Asn), g.150984457-151016662del (Ex2-8 Del) | Lebanese; Turkish; European; North African | 0 m − 12 yo | 10 F; 2 M | NA |  − 2.96 to + 2 s.d | Yes (10/12) | Yes (2/12) | Yes (11/12) | NA | Hypotonia (5/12) | Yes (11/12) | NA | Yes (11/12) | NA | Yes (10/12) | Cerebral atrophy (7/12), Cerebellar atrophy (6/12); Hyperintense brain lesions (4/12) | Focal spasms (2/12); Slow multifocal spikes (2/12) | [31] |
Homozygous p.(Asp106Asn) | Italian | 9 mo | NA | NA | NA | NA | NA | NA | NA | Hypotonia | NA | mild CK increase (976 U/L, n.v. < 150) | NA | NA | NA | cortical atrophy, severe thinning of white matter, and signal changes in the periventricular white matter and pons | multifocal epileptic abnormalities | [28] |
Homozygous p.(Arg128Gln) | Saudi Arabia | 12 mo | F | 2700 g | 33.0 cm | Yes | Yes | NA | Yes | Hypotonia | No | Unremarkable | NA | NA | Yes | delayed myelination, slightly abnormal shape of the corpus callosum, and mild frontal cerebral atrophy | NA | [25] |
Saudi Arabia | 12 mo | F | 2000 g | 33.0 cm | NA | Yes | NA | Yes | Hypotonia and appendicular spasticity with deep tendon reflexes + 3 | No | NA | NA | NA | Yes | A slightly abnormally shaped corpus callosum and slightly prominent CSF spaces anteriorly with normal myelination | NA | ||
Homozygous p.(Cys180*) | Japanese | 7 yo | F | NA | 31.0 cm | NA | No | Yes | Yes | Hypotonia | Yes | NA | NA | NA | Yes | Delayed myelination; Cerebral atrophy; Cerebellar atrophy | Hypsarrhythmia | [29] |
Homozygous c.521-2A>G | Canadian provinces | 2 yo | M | 5180 g | 38.0 cm | NA | No | NA | NA | Hypotonia | Yes | NA | NA | No | Yes | cortical atrophy and a small cerebellum, thinning of the corpus callosum, and patchy T2 hyperintensity in the cerebral white matter | Hypsarrhythmia | [27] |
Homozygous c.874_875insA p.(H292Qfs*3) | Turkish | 3 yo | M | 3750 g | 36.0 cm | NA | Yes | NA | Yes | Hypotonia | Yes | NA | NA | NA | Yes | cerebral and cerebellar atrophy with delayed myelination and inferior vermis hypoplasia | NA | [26] |
Compound heterozygous p.(Arg128Gln) and p.(Gly174 ∗) | European | 4 yo | F | 15,100 g | 41.5 cm | Yes | Yes | Yes | No | Hypotonia | Yes | NA | Yes | No | Yes | Moderate/severe progressive global brain atrophy; cerebral and cerebellar atrophy | Background slowing, infrequent temporal spike waves | [32] |
European | 20 mo | M | 1280 g | 41.0 cm | Yes | Yes | Yes | No | increased limb tone, brisk tendon reflexes | Yes | NA | Yes | No | Yes | Mildly prominent lateral ventricles and sulci, thinner splenium and corpus callosum | Modifiedhypsarrythmia, multifocalepileptiformdischarges |