April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Phenotype Associated With Two Novel OTX2 Mutations
Author Affiliations & Notes
  • C. Gerth
    Dept of Ophthalmology,
    University of Rostock, Rostock, Germany
  • K. Williamson
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
  • V. Hingst
    Dept of Radiology,
    University of Rostock, Rostock, Germany
  • R. Guthoff
    Dept of Ophthalmology,
    University of Rostock, Rostock, Germany
  • D. R. FitzPatrick
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
  • V. van Heyningen
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
  • Footnotes
    Commercial Relationships  C. Gerth, None; K. Williamson, None; V. Hingst, None; R. Guthoff, None; D.R. FitzPatrick, None; V. van Heyningen, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 3078. doi:
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    • Get Citation

      C. Gerth, K. Williamson, V. Hingst, R. Guthoff, D. R. FitzPatrick, V. van Heyningen; Phenotype Associated With Two Novel OTX2 Mutations. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3078.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : To demonstrate the phenotype associated with two novel heterozygous OTX2 mutations.

Methods: : Patients and available family members received a comprehensive eye exam including dilated fundus examination. Cerebral MRI was performed in the probands only. Genotype analysis was performed as follow: whole genome amplified (WGA) gDNA templates were PCR amplified for SOX2 (two amplicons) and OTX2 (four amplicons), followed by direct sequencing (ABI). Sequence data were analysed by Mutation Surveyor (Version 2.61, SoftGenetics). Point mutations were confirmed by 2nd PCR using non-WGA gDNA templates: the products were re-sequenced and subjected to enzyme mismatch cleavage (EMC) analysis using Surveyor Nuclease S (Transgenomic). Genomic DNA samples from family members were analyzed in parallel to the 2nd PCRs.

Results: : Proband (1) of German ancestry: born at GA 36 weeks, BW 2400g, clinical anophthalmia right eye and microphthalmia left eye. Proband (2) of Arabic ancestry: born at term with right side clinical anophthalmia but normal left eye (visual acuity 20/30). No other systemic anomalies were found. Cerebral MRI did not reveal any additional intracerebral malformations in both cases. Genetic analysis revealed a novel heterozygous OTX2 mutation in either proband: (1): c.276_294del19 (p.K92NfsX11) and (2) c.249G>T (p.Q83H or p.?).

Conclusions: : The two novel heterozygous OTX2 mutations are associated with a less severe phenotype than previously reported including unilateral anophthalmia, normal to severe phenotype in the second eye but no intracerebral or extraocular anomalies.

Keywords: genetics • mutations • development 
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