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Table 1 Genetic and phenotypic characterization of the present case and comparison with other WHSUS patients with paroxysmal not-epileptic events or EEG abnormalities without seizures

From: Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report

  Present case Ferretti et al. 2019 [7] Stessman et al. 2016 [6]
Gene variant (POGZ gene: NM_015100.3) p.Asp828GlyfsTer36 (c.2482dupG) p.Leu904* (c.2711 T > G) p.Gln1283* (c.3847C > T) p.Glu1154Thrfs*4 (c.3456_3457del)
Age at onset 3 months 4 months n.r. n.r.
Age at diagnosis 8 years n.r. n.r. n.r.
Dysmorphic features High and broad forehead; Bitemporal narrowing; Hypertelorism; Up-slanting and long palpebral fissures; Midface hypoplasia; Broad nasal bridge, anteverted nares; Protruding tongue; Macrostomy; Incisors diastasis; Clinodactyly of the fifth fingers; 4th toes brachydactyly and clinodactyly; Sandal gap. High and broad forehead; Bitemporal narrowing; Epicanthus; Broad nasal bridge; Macrostomy; Down-turned corners of the mouth; Poinetd chin; Clinodactyly. Brachycephaly; High nasal bridge, slight deviation of the nose, upturned tip of the nose; Thin upper lip. Brachycephaly; Flat midface; Hypertelorism; Epicanthic folds.
Growth Height 25th centile, BMI z-score 1.84 n.r. Height 0.6th centile, BMI z-score 1.8 Height 30th centile, BMI z-score 1.8
Microcephaly + +
Motor skills Hypotonia; Motor delay; Fine motor skill deficit; Visual-motor integration deficit; Clumsiness. Hypotonia; Severe psycho-motor delay. Mild/moderate motor delay Mild motor delay
Language Speech delay; Echolalia Absent speech Language skills regression Speech delay
Intellectual disability IQ 60 Severe Severe IQ of 55 (at 6 y)
Autism + +
ADHD n.r. n.r. n.r.
Seizures Paroxysmal not-epileptic events; EEG abnormalities without epilepsy (sharp waves over the biemispheric centro-temporal areas) Paroxysmal not-epileptic events; EEG abnormalities with epilepsy (bitemporal frontal spike-and-waves abnormalities) EEG epileptic abnormalities without epilepsy (bilateral frontal abnormalities) EEG epileptic abnormalities without epilepsy
Brain imaging Lateral ventricle enlargement; Fronto-temporo-parietal cortical atrophy. Cortical and subcortical cerebral atrophy associated with enlargement of the third ventricle and temporal horns of lateral ventricles; thin corpus callosum n.r. n.r.
Eye abnormality Esotropia High hypermetropia
Hearing loss + (sensorineural) n.r. + (conductive)
Gastrointestinal involvement Poor feeding; Gastric distension. Feeding problems  
Sleep disorders n.r. + n.r.
Congenital Heart Defect n.r. n.r. n.r.
Other Dorsal Hyperkyphosis Visual inattention anxiety, self mutilation n.r.
  1. ADHD Attention deficit/hyperactivity disorder, IQ Intelligent quotient, +: present – : absent, n.r. data not specifically reported in the cited studies