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E.D. Silva, J.M. Yang, I.H. Maumenee, O.H. Sundin; Defining the Minimal Critical Region for the Peters Plus Syndrome . Invest. Ophthalmol. Vis. Sci. 2003;44(13):840.
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© ARVO (1962-2015); The Authors (2016-present)
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 and search for candidate genes in this interval. Methods: We used GMP Conversion Technology to create stable hybrid cell lines that contained only one copy of chromosome 2 of our proband. We then used STS markers to determine the deletion interval and to characterize the deletion boundaries. Results: We narrowed the genetic interval to 4,9 Mb on 2p21-p22.2 and we have excluded both SIX3 and CYP1B1 as a potential candidates. Development of an integrated physical and genetic map of the interval identified 32 genes, some of which are expressed during eye development. Conclusions: We have defined one minimal critical region for the Peters plus syndrome. We are currently screening candidate genes that fall within this interval, in a panel of patients with this phenotype, hoping to further expand our knowledge of this complex anterior segment mesenchyme dysgenesis.
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