April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Genetic Heterogeneity In Aniridia
Author Affiliations & Notes
  • Priscilla Luke
    Ophthalmology, New York Medical College, New York, New York
  • Veronica van Heyningen
    Medical and Developmental Genetics Section, Human Genetics Unit Western General Hospital, Edinburgh, United Kingdom
  • Kathleen A. Williamson
    Medical and Developmental Genetics Section, Human Genetics Unit Western General Hospital, Edinburgh, United Kingdom
  • Alison G. Brown
    Medical and Developmental Genetics Section, Human Genetics Unit Western General Hospital, Edinburgh, United Kingdom
  • David Kronn
    Department of Pediatrics Regional Medical Genetics Center, New York Medical College, Westchester Medical Center, Hawthorne, New York
  • Danny H.- Kauffmann Jokl
    Ophthalmology, New York Medical College, New York, New York
  • Footnotes
    Commercial Relationships  Priscilla Luke, None; Veronica van Heyningen, None; Kathleen A. Williamson, None; Alison G. Brown, None; David Kronn, None; Danny H.- Kauffmann Jokl, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 73. doi:
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    • Get Citation

      Priscilla Luke, Veronica van Heyningen, Kathleen A. Williamson, Alison G. Brown, David Kronn, Danny H.- Kauffmann Jokl; Genetic Heterogeneity In Aniridia. Invest. Ophthalmol. Vis. Sci. 2011;52(14):73.

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

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Abstract

Purpose: : We present the genetic results of a case study supporting evidence for genetic heterogeneity in a family demonstrating aniridia

Methods: : Full genetic sequencing of the three family members regarding PAX6, SOX2, and OTX2 genes was carried out to evaluate the association with aniridia, microphthalmia, and anopthalmia.

Results: : The official notation for the PAX6 mutation observed in the child (GRADD) and his mother (GRAJA) is c.765+1_+2delGTinsCA. There is a strong splicing mutation at the splice donor site in intron 9 of PAX6. This will lead to a predicted premature protein termination, in some way that is not fully predictable. Non-causative variants were also identified in the father's (GRADA) PAX6 gene (c.327G>Ap.=(Glu109Glu) novel. This does not lead to a predicted protein change. This variant has not been seen before. In the mother's SOX2 gene: (c.453G>Ap.=(Ala151Ala) seen 1x. This is a nucleotide change that does not lead to a protein change and this variant has been seen once before. The child has not inherited either of these variants. A diagram of the family with the genomic changes is illustrated. We consider that the PAX6 changes in the mother and child account for their eye phenotype. We can report no causative gene change for the father's eye phenotype.

Conclusions: : Genetic heterogeneity exists and has been confirmed through genetic sequencing in a family demonstrating aniridia.

Keywords: iris • anterior chamber • anterior segment 
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