Table 1.
Clinical and genetic features of 15 individuals with heterozygous SUFU variants.
| Family # (origin) | Patient # (# in Wente et al.12) | Sex | Current age (years) | SUFU variant | Development | Neurological findings | MRI of the brain available | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| cDNA position | AA change | Unaided walking at age (months) | Speech delay | Ocular apraxia (onset, course) | Early-onset ataxia | Cognitive development | Head circumference at last follow-up (SD) | |||||
| 1 (T) | I:2 | F | 64 | c.83C>A | p.Ser28* | 11 | Yes | No | n.a. | n.a. | - 0.6 | No |
| II:3 | F | 41 | c.83C>A | p.Ser28* | “Normal” | Yes | No | No | Learning disability | - 0.2 | No | |
| II:5 | F | 37 | c.83C>A | p.Ser28* | 10 | No | No | No | Normal | + 0.2 | No | |
| II:8 | M | 21 | c.83C>A | p.Ser28* | 32 | Yes | 5 months, ↓ | Yes | Learning disability | + 1.3 | Yes | |
| III:3 | M | 6 | c.83C>A | p.Ser28* | 20 | Yes | 5 months, ↓ | Yes | Delayed | + 1.0 | No | |
| III:6 (10) | M | 13 | c.83C>A | p.Ser28* | 24 | Yes | 6 months, ↓ | Yes | Learning disability | + 0.1 | Yes | |
| 2 (S/CH) | I:1 | M | 42 | c.1099G>T | p.Glu367* | 27 | No | No | Yes | Normal | + 1.3 | Yes |
| II:1 (14) | M | 11 | c.1099G>T | p.Glu367* | 24 | Yes | 6 months, ↓ | Yes | Normal | + 0.9 | Yes | |
| 3 (D) | II:1 (19) | F | 10 | c.479delA (de novo) | p.His160Leufs*20 | 14 | No | 6 months, ↓ | No | Normal | + 2.6 | Yes |
| 4 (AL) | II:1 | M | 2 | c.1220_1221ins T (de novo) | p.Phe408Valfs*13 | 21 | No | 8 months, ↓ | Yes | Normal | - 0.2 | Yes |
| 5 (CH) | I:1 | M | 40 | c.309_310delAG | p.Arg103Serfs*3 | “Late” | No | Early childhood, still present | No | Normal | + 3.0 | Yes |
| II:1 | M | 6 | c.309_310delAG | p.Arg103Serfs*3 | 22 | Yes | 6 months, ↓ | Yes | Normal | + 0.6 | Yes | |
| 6 (A) | I:2 | F | 37 | c.[1333dupG] | p.[Glu445Glyfs*22] | 24 | No | No | No | Normal | + 1.3 | Yes |
| II:1 | M | 5 | c.[1333dupG] | p.[Glu445Glyfs*22] | 19 | No | 6 months, ↓ | Yes | Normal | + 1.8 | Yes | |
| II:2 | M | 2 | c.[1333dupG] | p.[Glu445Glyfs*22] | 21 | Yes | 10 months, = | Yes | n. a. | + 2.1 | No | |
A Austrian origin, AA amino acid, AL Albanian origin, cDNA complementary DNA, CH Swiss origin, D German origin, MRI magnetic resonance image, MTS molar tooth sign, n. a. not available, OA ocular apraxia, S Sardinian origin, SCP superior cerebellar peduncles, SD standard deviation, T Turkish origin, ↓ attenuating, = unchanged.