Abstract for presentation at 11th International Congress of Human Genetics

Identification of Novel Genes in Eye Development in Balanced Translocation Patients

  • Ms Marija Mihelec, Eye Genetics Group, Embryology Unit, CMRI; The Children's Hospital at Westmead; Save Sight Institute, University of Sydney, Australia
  • Dr David Amor, Department of Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia
  • Mr Chris Willcock, Eye Genetics Group, Embryology Unit, CMRI; The Children's Hospital at Westmead; Save Sight Institute, University of Sydney, Australia
  • Mr Luke St Heaps, Department of Cytogenetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Australia
  • Dr John Grigg, Save Sight Insitute, University of Sydney, Australia
  • Dr Patrick Tam, Eye Genetics Group, Embryology Unit, Children's Medical Research Institute, Australia
  • Dr Gregory Peters, Department of Cytogenetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Australia
  • Dr Robyn Jamieson, Eye Genetics Group, Embryology Unit, CMRI; CHW; Save Sight Inst, USyd; Discip. of Peadiat. & Child Health, Faculty of Med,USyd, Australia

    • Ocular developmental disorders cause significant visual handicap and blindness in childhood. Eye development is a complex process involving the interaction of the activity of many genes. Ocular anomalies have been associated with mutations in several genes including PAX6, FOXC1, PITX2, SOX2 and MAF. An efficient means of identifying novel genes in eye development is the analysis of balanced chromosomal translocations in patients with ocular anomalies. We are assessing the genetic defects of a patient with anophthalmia who harbours an apparently balanced de novo translocation. A combination of fluorescence in situ hybridisation (FISH) and comparative genomic hybridisation by microarray (array CGH) is being used to map the breakpoints and define any cryptic deleted regions. In another patient, an alternative strategy involves STS marker mapping of a panel of somatic cell hybrids for translocation breakpoint delineation. It is expected that the translocations may have dysregulated the activity of the genes near the chromosomal breakpoints, or that there may be cryptic gene deletion in these regions. The candidate status of genes in proximity to the breakpoints, is being assessed through EST analysis and ocular expression patterns of the murine orthologues.

    Conference Organiser - ICMS Pty Ltd