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L. Jiang, H.M. Bottomley, Z. Yang, Y. Zhao, H. Lee, K. Tawansy, W. Tasman, J. Nathans, C. Toomes, K. Zhang; Novel mutations in FZD4 with familial exudative vitreoretinopathy . Invest. Ophthalmol. Vis. Sci. 2004;45(13):2466.
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Purpose: Familial exudative vitreoretinopathy (FEVR) is an autosomal dominant retinal dystrophy characterized by premature arrest of normal retinal angiogenesis and incomplete vascularization of the peripheral retina. Vitreous hemorrhage, exudationexudation and traction retinal detachment are two severe complications of FEVR. FEVR is genetically heterogeneous with three loci mapped and two genes identified. Mutations in the Frizzled–4 gene (FZD4) have been identified in families linking to the EVR1 locus. The purpose of this study was to characterize clinical features and screen FZD4 in a panel of 13 FEVR patients. Methods: Genomic DNA was PCR–amplified with primers corresponding to the coding sequence of FZD4. The PCR products were screened for mutations by DHPLC (WAVE® System, Transgenomic, Omaha, NE) and by direct sequencing. Results: We identified two novel mutations M157V and W226stop in two families with autosomal dominant form of FEVR. Clinical findings in these families include retinal folds, retinal detachment, and incomplete peripheral vascularization. Conclusions: We identified two novel mutations in the FZD4 gene in a cohort of 13 unrelated FEVR patients. This result indicates that FZD4 mutations are responsible for a fraction of FEVR cases and suggests genetic heterogeneity. Identification and functional studies of genes causing FEVR will facilitate development of DNA diagnostic tools and new treatment strategies.
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