Table 2.
Phenotype in patients with mutation in SOX2 gene
| FamID | 3432 | 3194 | 2813 | 3171 | 3227 | 3303 | 3370 | 2850 | 3797 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CaseID | 3432 | 3433 | 3194 | 2813 | 3171 | 3227 | 3228 | 3303 | 3370 | 2850 | 3797 | |||||||||||
| Nucleotide change | c.70_89del20 | c.70_89del20 | c.138_140dupTGC | c.244_245delTT | c.302A>G | c.368A>G | c.368A>G | c.479_480dupAC | c.841_851del11insA | 1.6 Mb del | c277G>T | |||||||||||
| Predicted protein change or genomic coordinates | p.(Asn24Argfs*65) | p.(Ala47dup) | p.(Leu82Valfs*13) | p.(His101Arg) | p.(Asp123Gly) | p. (Ala161Thrfs*4) | p. (Ala281Argfs*87) | chr3:182,649,000–184,339,000 (hg18) | p.(Glu93*) | |||||||||||||
| Paternal/maternal genotype | ?/het (affected) | wt/wt | wt/wt | ? (unavailable)/wt | ? (unavailable)/wt | wt/het (affected) | wt/wt | wt/wt | ? (unavailable)/wt | wt/wt | ?/wt | |||||||||||
| Ancestral background | German | German | German | German | Croatian | Austrian | Austrian | German | German | Kirgigistan/Sachalin | German | |||||||||||
| Sex | Male | Female | Male | Male | Male | Female | Female | Female | Male | Female | Female | |||||||||||
| Gestational age (weeks+days) | 37 | 41 | 42 | 38 + 6 | 40 | 40 | 38 | 32 + 5 | 40 + 4 | 39 + 4 | ||||||||||||
| Birth weight (g) [Z-score] | 3700 [0.3] | 3830 [0.91] | 3440 [−0.32] | 2950 [−1.27] | 3250 [−0.34] | 3050 [−0.79] | 3090 [−0.7] | 2000 [−0.18] | 3840 [0.94] | 4210 [1.7] | ||||||||||||
| Birth occipitofrontal circumference (cm) [Z-score] | 34.5 [−0.55] | 33.7 [−1.18] | 31.5 [−2.9] | 34 [−0.44] | 32 [−2.06] | 34 [−0.44] | 35 [0.37] | |||||||||||||||
| Height (cm) [Z-score] | 101 [−0.36] | 178 [2.35] | 110 [−1.2] | 80 [−0.62] | 70 [1.93] | 85 [0.28] | 167 [0.53] | 110 [−2.1] | 80 [−4.7] | 120 [−1.8] | 78 [−0.91] | |||||||||||
| Weight (kg) [Z-score] | 18 | 57 [−1.97] | 19 [−0.72] | 10 [−1.27] | 8.8 [1.43] | 10.9 [−0.58] | 59 [−1.64] | 20 [−0.96] | 10 [−4.04] | 23 [−1.1] | 10 [−0.75] | |||||||||||
| Age at growth measurement | 4 years | 28.5 years | 6 years | 1.5 years | 5 months | 1.9 years | 34 years | 7 years | 3.4 years | 8.5 years | 1.5 years | |||||||||||
| Occipitofrontal circumference (cm) at age (years) [Z-score] | 51 at 4 [−0.083] | 45.5 at 4 [−4.5] | 47.8 at 3.8 [−2.9] | 48 at 3 [−1.9] | 45.6 at 2 [−2.8] | 46.0 at 5 [−4.4] | 49 at 8.9 [−3.4] | 44 at 1.5 [−3.36] | ||||||||||||||
| Age at last assessment | 3.0 years | 27.5 years | 2 years | 1.5 years | 5 months | 1.7 years | 34 years | 6 years | 2.4 years | 8.5 years | 3 months | |||||||||||
| Ocular phenotype | RE | LE | RE | LE | RE | LE | RE | LE | RE | LE | RE | LE | RE | LE | RE | LE | RE | LE | RE | LE | RE | LE |
| Clinical anophthalmia | x | x | x | x | x | x | x | x | x | x | x | x | x | x | x | |||||||
| Microphthalmia (axial length, mm) | x (18.5) | x | x (16.3 mm) | |||||||||||||||||||
| Microcornea (diameter, mm) | x (8.5) | x | x | x (4 × 7) | ||||||||||||||||||
| Sclerocornea | x | x | ||||||||||||||||||||
| Coloboma | Retinal/choroidal | Iris/retinal/choroidal | Iris/retinal/choroidal | |||||||||||||||||||
| No abnormalities | x | x | ||||||||||||||||||||
| Vision (decimal) | No | Fixation | 0.7 | No | No | No | No | No | No | No | No | No fixation | 1.0 | 0.025 | No | No | No | No | No | No | No | LP |
| Extraocular abnormalities | ||||||||||||||||||||||
| Cerebral MRI (at age) | Cavum vergae (2.9 years) | Not done | Small posterior corpus callosum, septum pellucidum cyst (3 months) | Fronto-temporal cerebral volume reduction (3 months) | Small septum pellucidum cyst (2 months) | Normal (10 days) | Not done | Frontal cerebral volume reduction (5.8 years) | Not done | Pineal cyst (4.5 years) | Normal (1 month) | |||||||||||
| Hearing | Normal? (OAEs at age 3 negative but had Eustachian catarrh) | No test available | OAEs at 6 years normal | OAEs at birth and age 4 years normal | No test available | Normal | Normal | OAEs after birth abnormal | OAEs at birth normal | OAEs at birth normal | Normal | |||||||||||
| Speech development | Delayed | Reduced | Good | Severe delayed (baby babble) | Normal | Normal | Severe delayed (only mommy, daddy) | Severe delayed (baby babble) | Normal | Normal | ||||||||||||
| Motor development | Delayed | Spastic gait | Walked at 2 years | Walks with support | Delayed | Normal | Severe delayed/cannot sit or walk | Severe delayed/cannot sit or walk | Normal | Normal | ||||||||||||
| Sleep | Normal | Normal | Normal | Wakes up at night irregularly | Normal | Normal | Normal | Normal | Normal | Normal | ||||||||||||
The genomic sequence identifiers for SOX2 are NT_005612.15 GI:88966845. het, heterozygous; LE, left eye; MRI, magnetic resonance imaging; OAEs, otoacustic emissions; RE, right eye; wt, wild-type; ?, unknown. ?, unknown; het, heterozygous; wt, wild-type.