Table 2 Summary of clinical features and gene findings in our SOX2 cases.
| Sex | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 | Case 9 | Case 10 | Case 11 | Case 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F | F | F | M | F | M | F | M | M | F | F | F | |
| Mutation | c.53C>A p.S18X | c.188delA p.N63fs101X | c.70del20 p.N24fs88X | c.480C>G p.Y160X | c.70del20 p.N24fs88X | c.285dupG p.K95fs109X | 3′ gene deletion | Whole gene deletion | Whole gene deletion | Whole gene deletion | Whole gene deletion | Whole gene deletion |
| Age at last visit (months) | 14.5 yrs | 24 | 49 | 10 | 5 | 5 | 26 | 30 | 21 | 20 | 17.5 yrs | 9 |
| Parental ages (m:f (years)) | 33:33 | 37:37 | 37:40 | 31:37 | 35:44 | 41:44 | 22:35 | 30:33 | 29:30 | 24:34 | 24:25 | 25:24 |
| Eye phenotype: | ||||||||||||
| Right eye | AN | ET, MAS, CO, CA, CR COL, MY | AN | MI | AN | AN | AN | AN | MI, RD | MI, RD | NOR | AN |
| Left eye | AN | ICP, ONH, MY | ASD, CA, GL, COL | MI | AN | AN | AN | Lamellar CA | MI, RD | MI, RD | AN | MI, SC |
| Vision | NPL/NPL | 6/60 BEO | NPL/NPL | NPL/NPL | NPL/NPL | NPL/NPL | NPL/NPL | NPL/6/12 | ?PL/PL | PL/PL | 6/9/NPL | NPL/?PL |
| Prenatal growth: | ||||||||||||
| Gestation (weeks) | 40 | 36* | 38 | 36 | 40 | 40 | 40 | 41 | 40 | 40 | 38 | 40 |
| Birth weight | 3.97 kg | 2.34 kg | 2.57 kg | 4.2 kg | 3.42 kg | 3.9 kg | 3.6 kg | 3.26 kg | 2.75 kg | 2.87 kg | 3.1 kg | 2.95 kg |
| HC (centile) | 25% | <10% | 75% | 25% | 25–50% | 50% | <<5% | 25% | ||||
| Postnatal growth: | ||||||||||||
| Height (centile) | <5% | 9–25% | <5% | 9% | 50–75% | 10–25% | 10% | <5% | 50% | 9% | <5% | 25% |
| Weight (centile) | 25% | 25–50% | <5% | 90% | 50–75% | 75–90% | <10% | 10–25% | <5% | <5% | 10% | 25% |
| HC (centile) | <0.4% | 25% | <10% | 75% | 50–75% | 25–50% | 50% | <5% | <0.4% | <5% | 75% | 5% |
| Neurological signs: | ||||||||||||
| Motor delay | Y | N | Y | N | N | Y | Y | Y | ||||
| Developmental delay | N | N | Y | N | N | N | Y | N | Y | |||
| Pituitary abnormalities | Y | UI | UI | Y | UI | Y | ||||||
| Neuroimaging | CC | NOR | Enlarged ventricles | NOR | NOR CT scan | |||||||
| Corpus callosal abnormalities | N | Y | N | N | N | |||||||
| Oesophageal abnormalities | N | N | OA, TOF | F | N | N | N | N | F | N | N | |
| Genital abnormalities | N | N | N | Y | N | N | N | Y | N | N | N | N |
| Renal abnormalities | HK | UR | N |
*One of nonidentical twins.
AN, anophthalmia; MI, extreme microphthalmia; CA, cataract; COL, coloboma; ONH, optic nerve hypoplasia; ET, esotropia; ASD, anterior segment dysgenesis; MAS, microanterior segment; OA, oesophageal atresia; TOF, tracheoesophageal fistula; BEO, both eyes open; HC, head circumference; U, unknown; UI, under investigation; RD, retinal detachment; N, no; Y, yes; CO, corectopia; CR, chorioretinal; MY, high myopia; ICP, irregular constricted pupil; HK, horseshoe kidney; UR, ureteric reflux; NOR, normal; SC, sclerocornea; CC, cerebellar changes; F, feeding difficulties.