Table 1.
List of mutations identified in the human STIL gene, and their functional consequence
| Mutation (nt) | Mutation (aa) | Domain affected (protein) | Functional consequence | Head OFC (S.D.) | Brain MRI data | References |
|---|---|---|---|---|---|---|
| c.453 + 5 G > A (splice donor) | p.Asp89Glyfs*8 (truncating) | All domains | No functional protein | −9 to −10 | Short cc, simplified gyration, lobar HPE | 42 |
| c.2150 G > A | p.Gly717Glu (missense) | CC domain | Presumably inability of STIL to oligomerize and interact with PLK4—decreased centriole duplication capacity | −7 to −8 | Partial cc agenesis, simplified gyration, lobar HPE | 4,45 |
| c.2354_2355dupGA | p.Lys785Glufs*2 (truncating) | Phosphorylation sites, STAN domain, KEN box | Removes critical PLK4 phosphorylation sites | 26 cm at birth | Cc agenesis, simplified gyration, lobar HPE | 44 |
| c.2392 T > G | p.Leu798Trp (missense) | — | ND | NA | NA | 46 |
| c.2826 + 1 G > A (splice donor) | p.Gly943Ilefs*14 (likely truncating) | STAN domain, KEN box | Not able to duplicate centrosomes since they cannot recruit SAS6 | −5 | NA | 27,43 |
| c.3655delG | p.Val1219* (initially reported as p.Leu128*; truncating) | KEN box | Resistance to APC/C-mediated degradation | −4 to −10 | NA | 5,18,27,43 |
| c.3715 C > T | p.Gln1239* (truncating) | KEN box | Resistance to APC/C-mediated degradation | −7 to −8 | NA | 18,27,43,95 |
| c.3835 C > T | p.Arg1279Cys (missense) | C terminus | ND | 26 cm at birth | Cc agenesis, simplified gyration, lobar HPE | 44 |