May 2005
Volume 46, Issue 13
ARVO Annual Meeting Abstract  |   May 2005
WAGR–Like Syndrome Phenotype Without Cytogenetic Abnormalities Detected on 11p13
Author Affiliations & Notes
  • E.D. Silva
    Dept of Ophthalmology, IBILI, Coimbra, Portugal
  • P. Faria
    Dept of Ophthalmology, IBILI, Coimbra, Portugal
  • J.N. Murta
    Dept of Ophthalmology, IBILI, Coimbra, Portugal
  • D. David
    National Health Institute Ricardo Jorge, Center of Human Genetics, Lisbon, Portugal
  • Footnotes
    Commercial Relationships  E.D. Silva, None; P. Faria, None; J.N. Murta, None; D. David, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 3812. doi:
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      E.D. Silva, P. Faria, J.N. Murta, D. David; WAGR–Like Syndrome Phenotype Without Cytogenetic Abnormalities Detected on 11p13 . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3812.

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

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Abstract: : Purpose: To present the clinical and molecular characterization of a child with WAGR–like phenotype without detectable chromosomal abnormalities in the WAGR region. Methods: We identified a 10 year old white female carrying a complex phenotype that includes ASD (aniridia–like) with secondary glaucoma, unilateral Wilms tumor, slight developmental delay, and past history of multiple urinary infeccions. Brain MRI was normal. We performed cytogenetic studies including FISH analysis of PAX6 and WT1, as well as extensive studies with a panel of PAC clones covering the entire 11p13 region. Results: We have been unable to find any chromosomal rearrangements that may affect the 11p13 region by FISH using a panel of cosmids encompassing the aniridia–associated PAX6 gene, the Wilms tumor predisposition gene WT1, and flanking markers in distal chromosome 11p13. Sequence analysis of PAX6 disclosed no mutations or deletions. Conclusions: We will present possible alternative genetic etiologies for this syndromic association possibly involving another Wilms tumor gene. We are currently screening candidate genes in patients with this phenotypical association, hoping to expand our knowledge of this complex anterior segment mesenchyme dysgenesis.

Keywords: anterior segment • genetics • fluorescent in situ hybridization 

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