May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Evidence of Further Genetic Heterogeneity in Axenfeld-Rieger Syndrome
Author Affiliations & Notes
  • M. Ye
    Univ of Alberta, Edmonton, Alberta, Canada
    Ophthalmology,
  • M. Asai-Coakwell
    Univ of Alberta, Edmonton, Alberta, Canada
    Ophthalmology,
  • S. Kogan
    Univ of Alberta, Edmonton, Alberta, Canada
    Ophthalmology,
  • R. Casey
    Univ of Alberta, Edmonton, Alberta, Canada
    Ophthalmology,
  • O. Lehmann
    Univ of Alberta, Edmonton, Alberta, Canada
    Ophthalmology,
    Medical Genetics,
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 5596. doi:
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    • Get Citation

      M. Ye, M. Asai-Coakwell, S. Kogan, R. Casey, O. Lehmann; Evidence of Further Genetic Heterogeneity in Axenfeld-Rieger Syndrome. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5596.

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

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Abstract

Purpose:: To determine the molecular mechanism in an Axenfeld-Rieger pedigree associated with short stature (SHORT syndrome).

Methods:: A pedigree comprising 3 individuals affected by Axenfeld-Rieger syndrome, glaucoma and short stature was ascertained. Since a proportion of SHORT syndrome has been attributed to PITX2 encompassing deletions, quantitative PCR (qPCR), PITX2 sequencing, karyotyping and array comparative genome hybridization (CGH) were performed.

Results:: The patients were found to have a normal karyotype, excluding the presence of a large chromosomal anomaly. Similarly qPCR and sequencing did not identify any segmental rearrangement or mutation affecting PITX2 (4q25). Array CGH also excluded the possibility of a segmental duplication/deletion involving the known Axenfeld-Rieger loci (4q25, 6p25, 13q14 and 16q24), and identified one area of the genome with a reduced intensity hybridization signal.

Conclusions:: These data exclude the possibility of a chromosomal rearrangement involving PITX2 (4q25), FOXC1 (6p25), or the reported Axenfeld-Rieger loci (13q14 and 16q24). The breadth of the clinical phenotype is in keeping with a contiguous gene syndrome and experiments are commencing to determine whether the localized reduced hybridization signal is attributable to segmental deletion or copy number polymorphism.

Keywords: genetics • retinal development • candidate gene analysis 
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