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 |