Clinical and genotypic information in 27 Chinese patients with TCIRG1-related IMO
| Case | Sex | Age at onset* | Mutation in TCIRG1 gene | Effect | Source | Gaze qualities | Optic atrophy | Optic canal diameter (mm) | FVEP | ||
| R | L | R | L | ||||||||
| 1 | M | 1 | c.1228G>T/c.2218-2219delCT | p.G410R | Parents | – | No | 1.6 | 1.6 | W | W |
| 2 | F | 1 | c.1837-1840delATGT/IVS15+1G>A | Deletion of frameshift | Parents | N | Yes | 1.2 | 1.3 | W | W |
| 3 | M | 2 | c.2181C>A | p.C727X | Mother | NRM | No | 1.7 | 1.3 | W | F |
| 4 | M | 1 | c.2161-2163ATC del | p.I721del | Mother | NRL | Yes | 1.2 | 1.3 | F | F |
| 5 | M | 1 | IVS13,-2A>C | p.Q372X | Mother | NRM | No | 1.1 | 0.9 | F | F |
| 6 | M | 5 | IVS15,+1G>A | Deletion of splicing site | Parents | – | No | 1.9 | 1.8 | W | W |
| 7 | M | 4 | c.796G>T/c.1372G>A | p.E266X/p.G458S | Parents | – | No | 1.6 | 1.5 | W | W |
| 8 | M | 2 | c.1019-c.1020:ins GGTGA/c.65(E2):delC | p.340,S>Sfs151/p.22,A>Afs5 | Parents | N, S | Yes | 1.5 | 1.5 | W | W |
| 9 | F | 1 | IVS3,+5G>A/IVS4,-21A>G | / | Parents | N, S | Yes | 1.7 | 1.7 | W | W |
| 10 | M | 6 | c.1213G>A/c.2218-2219delCT | p.G405R | Parents | N | Yes | 1.47 | 1.52 | W | W |
| 11 | F | 7 | c.685G>T/c.1897C>T | p.G229X/p.Q633X | Parents | N | No | 1.7 | 1.7 | W | W |
| 12 | F | 3 | c.1188delC/c.2008C>T | p.P397Pfs6/p.R670X | Parents | N | No | 2.2 | 2.3 | F | F |
| 13 | F | 4 | c.C649-1297 | Large segment protein deletion | Father | – | No | 4.1 | 3.8 | W | W |
| 14 | M | 4 | c.2008C>T(E16) | p.670,R>X(161) | Father | N | Yes | 2 | 1.7 | F | F |
| 15 | F | 3 | c.475dupG/c.1372G>A | p.P158fs/p.G458s | Parents | N, S | Yes | 1.96 | 1.81 | F | F |
| 16 | F | 2 | c.1036_1037insGTGC/c.1188delC | p.V348Cfs*143/p.F398Sfs*5 | Parents | S | No | 1.1 | 1.0 | W | W |
| 17 | M | 2 | c.1213G>A | p.G405R | Parents | – | No | 2.8 | 2.6 | W | W |
| 18 | F | 6 | c.117+5G>A/c.630G>A | / | Parents | – | No | 2.5 | 2.7 | W | W |
| 19 | M | 0 | c.1007_1013del/c.1015A>T/c.1213G>A | p.L336Pfs*8/p.S339C/p.G405R | Parents | NRL, N | Yes | 1.3 | 1.5 | F | F |
| 20 | F | 6 | c.1775G>A/IVS13,-2A>C | p.W592X | Parents | S | Yes | 1.24 | 1.56 | W | W |
| 21 | M | 3 | c.1733T>G/c.2008C>T | p.L578R/p.R670X | Parents | NRM, N | No | 1.7 | 1.3 | W | W |
| 22 | F | 0 | c.1213G>A/c.196+5G>A | p.(Gly405Arg)/p./ | Parents | S | No | 1.5 | 1.6 | W | W |
| 23 | M | 1 | c.1370delC | p.T457Tfs*71 | Parents | S | Yes | 1.8 | 1.4 | W | W |
| 24 | M | 2 | c.1114C>T/c.196+5G>A | p.(Gln372*) /p./ | Parents | – | No | 1.1 | 1.2 | W | W |
| 25 | M | 1 | c.1371delC | p.Thr457fs | Parents | N, S | Yes | 1.0 | 1.0 | F | F |
| 26 | F | 0.2 | c.1371delC | p.Thr457fs | Parents | NRL, S | No | 1.2 | 1.1 | W | W |
| 27 | M | 17 | c.1114C>T/c.2008C>T | p.Q372X/p.R670X | Parents | – | No | 2.0 | 2.0 | W | W |
*Month.
/, 'no change in amino acids'; F, flat wave; FVEP, Flash visual-evoked potential; IMO, infantile malignant osteopetrosis; L, left; N, nystagmus; NRL, no response to light; NRM, no response to moving; R, right; S, strabismus; TCIRG1, T-cell immune regulator 1; W, waveform.