Table 2.
Clinical Features of POGZ Individuals from ASD Cohorts
| EE1 | EE2 | EE5 | EE6 | EE7 | EE8 | |
|---|---|---|---|---|---|---|
| Mutation | c.3600_3607dupTGATGACG (p.Glu1203Valfs∗28) | c.3022C>T (p.Arg1008∗) |
c.1212C>A (p.Tyr404∗) |
c.538C>T (p.Gln180∗) |
c.3139G>T (p.Glu1047∗) |
c.2291del (p.Pro764Leufs∗27) |
| Age (years) | 8 | 14 | 21 | 7 | 7 | 6 |
| Gender | M | M | F | F | M | F |
| ID/DD | +/− | + | + | +/− | + | +/− |
| Speech or language delay | + | +/− | + | ++ | ++ | + |
| Motor delay | + | ++ | ND | ND | + | + |
| ASD | + | + | + | + | + | + |
| Microcephaly | − | +/− | − | − | − | − |
| Feeding problems | − | − | ND | ND | − | + |
| Vision problems | + | ND | ND | ND | + | + |
| Obesity tendency | + | + | +/− | − | + | + |
All HGVS annotations were annotated on RefSeq transcript NM_015100.3. A full clinical description for each individual can be found in Table S1.
ID, intellectual disability; DD, developmental delay; ASD, autism spectrum disorder; M, male; F, female; +, formal diagnosis (mild or moderate); ++, severe presentation; +/−, possessing some features and/or mild presentation; −, not present; ND, no data.