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]

Mutations in OTX2. a summary of the published cases. Table lists previously published mutations in OTX2 with associated phenotypes. The nucleotide and protein nomenclature used conforms to current standards and may differ from the notation used in the original publications (LOVD). Abbreviations: CPHD represents combined pituitary hormone deficiency; OD represents right eye; OS represents left eye; GH represents growth hormone.