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. |