Table 1.
Summary of the clinical findings and functional consequences of mutations in the TGIF gene
| Transcriptional repression | ||||||
|---|---|---|---|---|---|---|
| Mutation | Inheritance | Defects | TGFβ dependent | RXR-dependent | Clinical findings | Reference |
| c.83C>T (p.S28C) | Paternal | No CtBP interaction | decreased | decreased | H, CNPAS, SCI, ACC, DD | [11, 39] |
| c.133G>T (p.E45X) | De novo | Truncation | No | No | lobar HPE, median CL/P, MC | This report |
| [c.140_141delTG] + | Paternal | p.S46fs causes truncation | No | No | Semilobar HPE, CL/P | This report |
| [c.228C>A; p.H76Q] | Maternal | Likely normal | Yes | Yes | ||
| c.177C>G (p.Y59X) | Paternal | Truncation | No | No | Semilobar HPE, MC, H; father with H, lateral CL | [23] |
| c.187C>G (p.P63A) | De novo | Likely mis-folded | No | No | Lobar HPE, CL/P, MR | [11] |
| c.268C>T (p.R90C) | De novo | Likely mis-folded | No | No | Alobar HPE, H, median CL, PMA | [24] |
| c.778delC (K259fs) | Paternal | Likely mis-folded | No | decreased | Proband referred for HPE; father anosmia, H | This report |
| c.320A>T (p.Q107L) | Maternal? | Likely normal | Yes | Yes | Proband unavailable; mother MC, CL/P, MR | [23] |
| c.451A>G (p.T151A) | Unknown | p.T151A likely normal | Yes | Yes | Semilobar HPE, MC, H, midline CL; father not available | [11] |
| c.485C>T (p.S162F) | Paternal | p.S162F likely normal | Yes | Yes | Proband with encephalocele, ACC midline CL; normal father also positive | [10] |
Abbreviations: H, hypotelorism; CNPAS, congenital nasal pyriform aperture stenosis; SCI, single central incisor; ACC, agenesis corpus callosum; DD, developmental delay; CL/P, cleft lip and palate; MC, microcephaly; HPE, holoprosencephly; PMA, premaxillary agenesis; MR. mental retardation.