EPOS

European Paediatric Ophthalmological Society

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DEFINING THE MINIMAL CRITICAL REGION FOR THE PETERS PLUS SYNROME.

Silva, E.1, Yang, J.M. 2, Maumenee, I.H. 3, Sundin, O. 2
1. Dept. of Pediatric Ophthalmology, University of Coimbra, Portugal. 2. Lab. Developmental Biology and Genetics, Wilmer Eye Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA. 3. Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Eyes Institute, Baltimore MD, USA.

Purpose: To define the MCR in a patient with the Peters plus syndrome carrying a de novo interstitial deletion of the short arm of chromosome 2.
Methods: We use GMP Conversion Technology to create stable hybrid cell lines that contained only one copy of chromosome 2 of our proband. We then used STS specific markers for the determination of the deletion extent and to characterize the deletion boundaries.
Results: We narrowed the genetic interval to 4,9 M band and excluded SIX3 as a potential candidate. Development of an integrated physical and genetic map of the interval identified 32 genes, some of which are expressed during eye development.
Conclusion: We have defined one minimal critical region for Peters plus syndrome. We are currently screening gene candidates that fall within this interval, hoping to further expand our understanding of complex anterior segment dysgenesis.