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E.D. Silva, J. Cardoso, M.G. Boavida, D. David; MOLECULAR CHARACTERIZATION OF A FAMILIAL TRANSLOCATION ASSOCIATED WITH PETERS ANOMALY. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):1525.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose:To define the breakpoint regions and candidate genes potentially involved in the pathogenesis of Peters anomaly, in a family with a balanced chromosomal translocation t(1;7)(q41;p21) presenting with this ocular phenotype. Methods:We identified a two–generation pedigree with 4 affected individuals carrying the association of a balanced chromosomal translocation with Peters anomaly. We performed cytogenetic studies followed by localization of the translocation breakpoints, using STS markers and YAC clones, and characterization of the junction fragments. Results: A candidate gene from each breakpoint was identified: on chromosome 7, HDAC9 gene is disrupted by the translocation breakpoint, while on chromosome 1, another candidate TGFß2 may be affected by a position effect. Conclusions: We have provided the molecular characterization of a balanced familial translocation that may implicate new genes in the pathogenesis of Peters anomaly. We are currently screening candidate genes, in a panel of patients with this phenotype, hoping to expand our knowledge of this complex anterior segment mesenchyme dysgenesis.
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