Table 3.
Phenotype in patients with OTX2 mutation
| FamID | 2896 | 3197 | 2867 | 3346 | 3000 | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CaseID | 2896 | 3197 | 2867 | 3362 | 3346 | 3000 | ||||||
| Nucleotide change | c.234delC | c.249G>T | c.276_294del19 | c.276_294del19 | 455 kb deletion | 6.5 Mb deletion | ||||||
| Predicted protein change | p.(Glu79Serfs*30) | p.(Gln83His) or p.? | p.(Lys92Asnfs*11) | chr14:56,224,000-56,679,000 (hg18) | chr14:56,094,000-62,594,000 (hg18) | |||||||
| Paternal/maternal genotype | ?/wt | wt/? | wt/het (unaffected) | ?/? | wt/wt | ?/? | ||||||
| Ancestral background | German | Arabic Emirates | German | German | Polish | German | ||||||
| Sex | Male | Female | Female | Female | Male | Female | ||||||
| Gestational age (weeks + days) | 41 + 5 | 36 | 39 + 2 | 39 | ||||||||
| Birth weight (g) [Z-score] | 3870 [0.31] | 2400 [−0.55] | 2920 [−0.98] | 2810 [−1.01] | ||||||||
| Birth occipitofrontal circumference (cm) [Z-score] | 34 [−0.95] | 33 [−1.2] | 38 [2.2] | |||||||||
| Height (cm) [Z-score] | 98 [−3.6] | 142 [2.19] | 113 [0.93] | 95 [0.9] | 112 [−1.7] | |||||||
| Weight (kg) [Z-score] | 13 [−4.3] | 39 [1.8] | 13 [−2.8] | 12.5 [−0.88] | 19 [−1.3] | |||||||
| Age at growth measurement (years) | 6 | 8.6 | 5 | 2.6 | 7 | |||||||
| Occipitofrontal circumference (cm) at age (years) [Z-score] | 48.9 at 5.7 [−2.7] | No microcephaly | 47.7 at 5 [−3.3] | 49 at 3 [−1.7] | 47 at 8.8 [−5.1] | |||||||
| Age at last assessment (years) | 6 | 8.6 | 6 | 34 | 1 | 8.7 | ||||||
| Ocular phenotype | RE | LE | RE | LE | RE | LE | RE | LE | RE | LE | RE | LE |
| Clinical anophthalmia | x | x | x | x | x | x | x | x | ||||
| Microphthalmia (axial length, mm) | x (15.0) | |||||||||||
| Microcornea (diameter, mm) | x (8.0) | |||||||||||
| Sclerocornea | ||||||||||||
| Coloboma | Retinal | |||||||||||
| Other | No iris visible, dysplastic retina | Amblyopia | ||||||||||
| No abnormalities | x | x | ||||||||||
| Vision (decimal) | No | No | No | 1.0 | No | No | 1.0 | 0.2 | No | No | No | No |
| Extraocular abnormalities | ||||||||||||
| Cerebral MRI (at age) | No tractus opticus (3 months) | Normal (6 months) | Normal (3 months) | Not done | Normal (1 day) | Small pituitary gland (4.7 years) | ||||||
| Hearing | Right OAE at birth normal | Normal | Normal | ABR and OAEs at 8 months normal | BERA at age 2.5 years: good responses from 60 to 30 db | |||||||
| Extremities | Talipes equinovarus | |||||||||||
| Ear malformation | Left microtia II° | |||||||||||
| Speech development | Severe delayed (baby babble) | Normal | Delayed | Normal | Normal | Delayed | ||||||
| Motor development | Severe delayed, does not crawl/walk | Normal | Delayed (walks short distances w/o support | Normal | Normal | Delayed | ||||||
| Sleep | Sleep disorders (abnormal SDSC) | Normal | Sleep disorders (abnormal SDSC) | Normal | Normal | Wakes up at night | ||||||
The genomic sequence identifiers for OTX2 are NT_026437.11 GI:51493278. ABR, auditory brainstem response; BERA, brainstem evoked response audiometry; LE, left eye; MRI, magnetic resonance imaging; OAEs, otoacustic emissions; RE, right eye; SDSC, sleep disturbance scale for children.