Table 3.
Clinical and genetic findings of the 11 CFEOM probands with TUBB3 variants
| Subject | C9-2 | C5 | C14-2 | C19-4 | C31 | C42-2 | C65 | C6 | C21 | C32 | C52 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender/Age | M/3y | F/3y | M/5y | M/3y | F/14y | F/6y | F/3y | M/10y | M/11y | F/19y | M/3y |
| Family history | + | − | + | + | − | + | − | − | − | − | − |
| Genetic findings | |||||||||||
| cDNA variantion | c.232T > A | c.784C > T | c.784C > T | c.784C > T | c.784C > T | c.784C > T | c.784C > T | c.1138C > T | c.1228C > T | c.1228C > T | c.785G > A |
| AA change | p. S78T | p. R262C | p. R262C | p. R262C | p. R262C | p. R262C | p. R262C | p. R380C | p. E410K | p. E410K | p. R262H |
| Ophthalmological characteristics | |||||||||||
| Ptosis | R | B | L | B | B | B | B | B | B | B | R |
| Ocular alignment | ET, HoT | XT, HoT | XT, HoT | XT, HoT | ET, HoT | HoT | XT, HoT | XT, HoT | XT, HoT | XT | XT, HoT |
| Limited horizontal eye movements | − | B | L | B | − | − | B | − | B | B | B |
| Limited vertical eye movements | B | B | B | B | B | B | B | B | B | B | B |
| Nystagmus | − | − | − | − | + | − | − | − | − | − | − |
| Corneal exposure | − | − | − | − | − | − | − | − | + | + | + |
| brain malformations (MRI) | |||||||||||
| OBS | − | − | − | − | − | − | − | − | + | + | + |
| CN3 | + | + | + | + | + | + | + | + | + | + | + |
| CN7: Facial weakness | − | − | − | − | − | − | − | − | + | + | + |
| EOMs | + | + | + | + | + | + | + | + | + | + | + |
| Corpus callosum | / | − | − | − | − | − | + | + | + | + | + |
| Cerebellum | / | − | − | − | − | − | − | + | − | − | + |
| Anterior commissure | / | − | − | − | − | − | + | + | + | + | + |
| Basal ganglia | / | − | − | − | − | − | − | + | − | − | + |
| Internal capsule | / | − | − | − | − | − | + | + | − | − | + |
| External capsule | / | − | − | − | − | − | − | + | − | − | − |
| Thalamus | / | − | − | − | − | − | − | + | − | − | + |
| Lateral ventricle | / | − | − | − | − | − | − | + | + | + | + |
| Sylvian fissure | / | − | − | − | − | − | − | − | − | − | + |
| Hippocampus | / | − | − | − | − | − | − | − | − | − | + |
| Others | |||||||||||
| Intellectual impairment | − | − | − | − | − | − | − | + | + | + | + |
| Congenital contractures | − | − | − | − | − | − | − | − | − | − | + |
| Leg length discrepancy | − | − | − | − | − | − | − | − | − | − | + |
| Impaired gait | − | − | − | − | − | − | − | + | + | + | + |
| Cryptorchidism | − | † | − | − | † | † | † | − | + | † | + |
| Infertility | +* | ||||||||||
| Cyclic vomiting | − | − | − | − | − | − | − | − | − | − | + |
M, Male; F, Female; y, year; AA, Amino acid; R, Right; B, Bilateral; L, Left; XT, Exotropia; ET, Esotropia; HoT, Hypotropia; OBS, Olfactory bulbs and sulci; EOMs, Extraocular muscles; /, Not available; † Not applicable; + *, Infertility was found in subsequent clinical follow-up