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Table 2 Summary of Ocular Phenotypes and Next-Generation Sequencing Results in Two Patient Groups

From: Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

Patient

Right and Left Eye Findings

Additional features

Next generation coding sequence

alterations verified by Sanger sequencing in this study

ANOP1

   

792-505

Anophthalmia

-

-

792-508

Anophthalmia

Feeding disorder

c.313C > T → p.Glu105X in OTX2

792-526

Anophthalmia

Learning disabilities

-

792-539

Anophthalmia

Asperger syndrome

-

792-542

Microphthalmia, coloboma, cyst

-

c.24C > G → p.Leu8Leu in GDF6

c.618C > G (Hz) → p.Ala206Ala in FOXE3

792-570

Anophthalmia/Microphthalmia, microcornea, lens opacification

-

c.601 G > A → p.Val201Met in FOXE3

792-601

Microphthalmia, chorioretinal colobomas

Hydrocele

-

09-122

Anophthalmia

-

c.542delC → p.Pro181Argfs*22 in SOX2

ANOP2

   

792-056A

Microphthalmia

Pervasive developmental disorder

-

792-518

Microphthalmia

Hamartoma tuber cinereum

c.124 G > A → p.Glu42Lys in CRYBA4

[c.70del20 in SOX2 ]

792-530

Anophthalmia

Learning disabilities, Arnold-Chiari malformation

-

792-531

Anophthalmia

-

c.871 G > A → p.Asp291Asn in VSX2;

[c.67-69dupGGC in SOX2 ]

792-548

Microphthalmia

-

-

792-563

Microphthalmia

Arnold-Chiari malformation

c.720C > A (Hz) → p.Cys240X in FOXE3

792-572

Anophthalmia

Learning disabilities, autistic behavior

c.520 G > A (Hz) → p.Ala174Thr in FOXE3

  1. Coding sequence variants only are included and mutations are highlighted in bold; (Hz) = Homozygous sequence alteration; the remainder of the sequence alterations were heterozygous.