Table 1 of Henderson, Mol Vis 2009; 15:2442-2447.

Table 1. Previously published mutations in OTX2 with associated phenotypes.

Nucleotide Protein Phenotype Reference
c.674A>G p.Asn225Ser CPHD [22]
c.674A>G p.Asn225Ser CPHD [22]
whole gene deletion whole gene deletion Extreme microphthalmia [20]
whole gene deletion whole gene deletion Anophthalmia [20]
c.93C>G p.Tyr31X Microphthalmia [20]
c.106dupC p.Arg36ProfsX52 Microphthalmia OD/ normal OS [20]
c.106dupC p.Arg36ProfsX52 Anophthalmia OD/ Coloboma OS [20]
c.289C>T p.Gln97X Extreme microphthalmia [20]
c.289C>T p.Gln97X Inferior iris coloboma OD/ retinal coloboma OS [20]
c.373_374delAG p.Gly126TrpfsX11 Anophthalmia [20]
c.404_405dupCT p.Ser136LeufsX43 Anophthalmia and CPHD [21]
c.402dupC p.Ser135LeufsX2 Anophthalmia, GH deficiency; cleft palate [7]
c.463_464dupGC p.Ser156LeufsX23 bilateral anophthalmia; developmental delay [11]
c.265C>G p.Arg89Gly bilateral microphthalmia [11]
c.81delC p.Ser28ProfsX23 bilateral severe microphthalmia [11]
c.537T>A p.Tyr179X severe microphthalmia and colobomata, developmental delay seizures [11]
c.537T>A p.Tyr179X bilateral mild microphthalmia, retinal dystrophy originally described as LCA [11]
c.117_118delCC p.Arg40GlyfsX47 bilateral anophthalmia [11]
c.295C>T p.Gln99X bilateral anopthalmia [11]
c.397C>A p.Pro133Thr bilateral microphthalmia [11]
c.400C>G p.Pro134Ala anophthalmia OS/ OD normal [11]