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]

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.

Henderson, Mol Vis 2009; 15:2442-2447. http://www.molvis.org/molvis/v15/a260

©2009 Molecular Vision http://www.molvis.org/molvis/

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