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Table 1 Phenotypic and molecular data

From: POGZ truncating alleles cause syndromic intellectual disability

Patient ID 1a 2 3 4 5 Patients reported in literature (8)
Genotype c.2321_2324delCTCT c.2763dupC c.833C > G c.2935C > T c.2780dupT  
Effect p.Ser774Cysfs*16 p.Thr922Hisfs*22 p.Ser278* p.Arg979* p.Leu927Phefs*17 Frameshift or stopgain (7); missense (1)
Exon number Exon 15 (CDS 14) Exon 19 (CDS 18) Exon 6 (CDS 5) Exon 19 (CDS 18) Exon 19 (CDS 18)  
De novo Not maternal + + + + 8/8
Age at evaluation 15 years 19 months 3 years 10 months 5 years 4 years 7 months  
Gender F F M F F M (3); F (2); NR (3)
Paternal age NA 45 years 28 years NA 30 years  
DD/ID + + + + + + (7); NR (1)
Behavioral phenotype + + + NA +  
ASD NA - + NA + ASD (4); schizophrenia (1); psychiatric abnormality (1)
Hearing loss - SNHL NA SNHL SNHL + (1); NR (7)
Vision Mild myopia Cortical blindness Astigmatism, hyperopia Rod-cone dystrophy, anisometropia Astigmatism Abnormal ERG, 1; hyperopia and Horner syndrome, 1; optic coloboma, 1
Seizures - - Complex partial seizures - - 1 (with hypoglycemia); NR (7)
GI manifestations NA + + + +  
Stature <10th percentile + + - + + + (1); NR (7)
Microcephaly - + - + + + (2); NR (6)
Brachycephaly + + - + +  
Midface hypoplasia + - - + +  
Strabismus - + + + + + (1); NR (7)
Optic nerve hypoplasia - - - + +  
Long and flat malar region + + + + -  
Flat nasal bridge + + - - +  
Broad nasal tip + + + + +  
Short philtrum + + + + +  
Thin vermillion border + + + - +  
Downturned corners of the mouth + + + + +  
Palate abnormality High arched palate - Bifid uvula High arched palate Cleft palate, high arched palate  
Pointed chin + + - + +  
Ears Over-folded superior helices Low set, posteriorly rotated - Posteriorly rotated - + (1; abnormal outer ear); NR (7)
Micrognathia - - - - + (infancy)  
Prognathism + - - + + (toddler)  
Short neck + + - - -  
Brachydactyly - - + - +  
Joint laxity + + - - -  
Hypotonia + + + - + + (1); NR (7)
Brain MRI No structural anomalies Diffuse T2 hyperintensity, delayed myelination No structural anomalies No structural anomalies Dandy-Walker variant; decreased white matter; enlarged third and fourth ventricles +1 (thin corpus callosum); NR (7)
Sleep apnea + - - + -  
Congenital malformations - Congenital diaphragmatic hernia; PDA, PFO/ASD; duplicated renal collecting system - - PFO; left duplicated renal collecting system  
  1. Abbreviations: ASD atrial septal defect, GI gastrointestinal, F female, M male, MRI magnetic resonance imaging, NA not available, NR not reported, PDA patent ductus arteriosus, PFO patent foramen ovale, SNHL sensorineural hearing loss
  2. aPatient 1 was previously reported as patient 2 in Bi et al. [28]