Table 2 Summary of clinical features and gene findings in our SOX2 cases
SexCase 1Case 2Case 3Case 4Case 5Case 6Case 7Case 8Case 9Case 10Case 11Case 12
FFFMFMFMMFFF
Mutationc.53C>A p.S18Xc.188delA p.N63fs101Xc.70del20 p.N24fs88Xc.480C>G p.Y160Xc.70del20 p.N24fs88Xc.285dupG p.K95fs109X3′ gene deletionWhole gene deletionWhole gene deletionWhole gene deletionWhole gene deletionWhole gene deletion
Age at last visit (months)14.5 yrs244910552630212017.5 yrs9
Parental ages (m:f (years))33:3337:3737:4031:3735:4441:4422:3530:3329:3024:3424:2525:24
Eye phenotype:
Right eyeANET, MAS, CO, CA, CR COL, MYANMIANANANANMI, RDMI, RDNORAN
Left eyeANICP, ONH, MYASD, CA, GL, COLMIANANANLamellar CAMI, RDMI, RDANMI, SC
VisionNPL/NPL6/60 BEONPL/NPLNPL/NPLNPL/NPLNPL/NPLNPL/NPLNPL/6/12?PL/PLPL/PL6/9/NPLNPL/?PL
Prenatal growth:
Gestation (weeks)4036*38364040404140403840
Birth weight3.97 kg2.34 kg2.57 kg4.2 kg3.42 kg3.9 kg3.6 kg3.26 kg2.75 kg2.87 kg3.1 kg2.95 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 delayYNYNNYYY
Developmental delayNNYNNNYNY
Pituitary abnormalitiesYUIUIYUIY
NeuroimagingCCNOREnlarged ventriclesNORNOR CT scan
Corpus callosal abnormalitiesNYNNN
Oesophageal abnormalitiesNNOA, TOFFNNNNFNN
Genital abnormalitiesNNNYNNNYNNNN
Renal abnormalitiesHKURN
  • *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.