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Table 3 Clinical characteristics of 41 patients with PRUNE1 mutations

From: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

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  
  1. ID: Intellectual disability, DD: Developmental delay; DR: Developmental regression