Table 1.
Clinical Features of Individuals Harboring POGZ Mutations from ID and/or DD Cohorts
| UMCN1 | UMCN2 | UMCN3 | UMCN4 | UMCN5 | UMCN6 | UMCN7 | UMCN8 | UMCN9 | UMCN10 | EE3 | EE4 | FR1 | FR2 | FR3 | FR4 | FR5 | FR6 | EE9a | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mutation | c.2590C>T (p.Arg864∗) | c.3001C>T (p.Arg1001∗) | c.3456_3457del (p.Glu1154Thrfs∗4) | c.2263del (p.Glu755Serfs∗36) |
c.1152dup (p.Arg385Serfs∗4) | c.2432+1G>A (p.?) |
c.2020del (p.Arg674Valfs∗9) | c.3847C>T (p.Gln1283∗) | c.3456_3457del (p.Glu1154Thrfs∗4) | c.3040C>T (p.(Gln1014∗)) | c.2196_2198delAG (p.Val733del) | c.2020del (p.Arg674Valfs∗9) | c.2545+1del (p.?) | c.2400dup (p.Lys801Glnfs∗7) | c.2836del (p.Asp946Metfs∗12) | c.2574del (p.His858Glnfs∗13) | c.1810G>T (p.Glu604∗) | c.3001C>T (p.Arg1001∗) | c.2501del (p.Leu834Trpfs∗20) |
| Age (years) | 5 | 13 | 9 | 6 | 2 | 12 | 5 | 26 | 8 | 11 | 19 | 12 | 4 | 11 | 6 | 6 | 24 | 17 | 11 mo. |
| Gender | F | M | M | M | M | M | F | M | M | F | M | M | M | F | F | F | M | M | M |
| ID/DD | ++ | ++ | +/− | + | ++ | + | + | ++ | + | + | + | + | ++ | + | ++ | ++ | + | ++ | +/− |
| Speech or language delay |
++ | ++ | ++ | + | + | ++ | + | ++ | ++ | ++ | + | + | ++ | + | + | ++ | ++ | + | ND |
| Motor delay | + | + | + | + | + | +/− | + | + | +/− | +/− | ++ | + | ++ | + | + | + | +/− | + | ND |
| ASD | +/− | + | +/− | +/− | +/− | + | + | − | − | − | − | − | + | − | + | + | ND | + | ND |
| Microcephaly | + | + | + | − | + | − | +/− | + | − | − | − | − | + | − | + | + | − | − | ND |
| Feeding problems | ND | + | + | + | + | − | − | + | + | + | ND | − | + | − | + | ND | − | − | ND |
| Vision problems | − | + | + | − | + | + | − | − | + | − | + | + | + | − | + | + | ND | + | ND |
| Obesity tendency | ND | − | − | − | + | + | − | + | + | + | + | − | − | + | − | − | + | − | ND |
All HGVS annotations were annotated on RefSeq transcript (GenBank: NM_015100.3). A full clinical description for each individual can be found in Table S1. Abbreviations are as follows: mo., months; 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.
a
inheritance unknown.