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Title: Molecular Genetic Analysis of Familial Exudative Vitreoretinopathy in Indian Patients
Keywords: Molecular Genetic Analysis, Vitreoretinopathy
University: Birla Institute of Technology and Science
Completed Date: 
Abstract: Familial exudative vitreoretinopathy (FEVR) is a rare, inherited, bilateral eye disorder characterized largely by the avascular peripheral retina that leads to retinal ischemia and further progresses to retinal neovascularization, subretinal exudation and hemorrhages, partial or total retinal detachments and complete blindness. Mutations in genes involved in the formation of a ligand-receptor complex in Norrin-and#946; catenin signaling pathway were linked with the disease pathogenesis in large FEVR families. The functional characterization of this signaling pathway was later identified to play a crucial role in FEVR. newlineGenetic heterogeneity is the hallmark of FEVR and mutations in five candidate genes (NDP, FZD4, LRP5, TSPAN12 and ZNF408) have been reported to be linked with autosomal dominant, autosomal recessive and X-linked forms of this disease in different ethnic groups. The knock out animal models of these candidate genes provided further evidence to their role in the development of retinal angiogenesis and ocular features similar to FEVR. The implication of these candidate genes in FEVR has been well documented across different ethnicities. But despite a higher prevalence in the Indian context, there is only one report on FZD4 gene in a relatively smaller cohort. Thus, the present study was undertaken to assess the overall contributions of the NDP, FZD4, TSPAN12 and ZNF408 genes and to assess their mutation spectrum in a large cohort of unrelated and clinically well characterized FEVR patients (n=110) from India. Furthermore, an attempt was made to establish a genotype-phenotype correlation. newlineThe screenings of NDP, FZD4, TSPAN12 and ZNF408 genes led to identification of 22 potentially pathogenic mutations in 26.3% (29/110) of the FEVR probands in the coding regions, of which, 16 were novel. These included 14 missense changes, 5 small base pair deletions, a single base pair insertion, a non sense mutation and a nonstop change. None of these mutations were observed across the unrelated and ethnically matched normal s
Pagination: 6.43 MB
Appears in Departments:Biological Science

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