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Abstract #28237 Published in IGR 13-1
Identification of novel disease genes in anterior eye disorders
Mohamed Yousoof S; St Heaps L; Darmanian A; Peters G; Jamieson RTwin Research and Human Genetics: the Official Journal of the International Society for Twin Studies 2010; 13: 654-655
The development of the human eye depends on highly differentiated tissues that result from a proper interaction between several genes encoding transcriptional factors and signaling molecules. Disruption of the genes can cause abnormal eye structures that can critically affect the ocular function and blockage of aqueous humor flow, thus increasing the risk of developing glaucoma. In some cases, the structural anomalies can lead to severe visual impairment and leave the patients with few treatment options. Some genes including PITX2 and FOXC1, are known to be associated with eye anterior segment dysgenesis and glaucoma. In the majority of patients, the underlying disease genes are not yet known. In the present study, we apply high resolution array CGH and characterization of chromosomal translocations to identify novel candidate disease genes in patients with anterior segment disorders/glaucoma. We identified two families with chromosome abnormality regions. Using bioinformatic analyses, we have identified candidate disease regions. These regions contain novel transcription factor and signaling pathway molecules in developmental eye disease. These findings highlight the utility of CGH microarray and chromosomal anomaly analysis in candidate novel disease gene identification.
S. Mohamed Yousoof. Eye Genetics Research Group, Children's Medical Research Institute, Save Sight Institute, Sydney, Australia.
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
