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Spectrum and Frequency of FZD4 Mutations in Familial Exudative Vitreorectinopathy


Toomes, C and Bottomley, HM and Scott, S and Mackey, DA and Craig, JE and Appukuttan, B and Stout, JT and Flaxel, CJ and Zhang, K and Black, GCM and Fryer, A and Downey, LM and Inglebearn, CF, Spectrum and Frequency of FZD4 Mutations in Familial Exudative Vitreorectinopathy, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 45, (7) pp. 2083-2090. ISSN 0146-0404 (2004) [Refereed Article]

DOI: doi:10.1167/iovs.03-1044


PURPOSE. Mutations in the frizzled-4 gene (FZD4) have recently been associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) in families linking to the EVR1 locus on the long arm of chromosome 11. The purpose of this study was to screen FZD4 in a panel of 40 patients with FEVR to identify the types and location of mutations and to calculate what proportion of this heterogeneous condition is attributable to FZD4 mutations. METHODS. PCR products were generated from genomic DNA with primers designed to amplify the coding sequence of FZD4. The PCR products were screened for mutations by single-strand conformational polymorphism-heteroduplex analysis (SSCP-HA) and by direct sequencing. RESULTS. In total, eight mutations were identified, seven of which were novel. Three were deletions (c957delG, c1498delA, and c1501-1502delCT), one was a nonsense mutation (Q505X), and four were missense mutations (G36D, M105T, M157V, and S497F). CONCLUSIONS. Eight mutations have been identified in the FZD4 gene in a cohort of 40 unrelated patients with FEVR. This result indicates that FZD4 mutations are responsible for only 20% of FEVR index cases and suggests that the other FEVR loci may account for more cases than previously anticipated.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:30844
Year Published:2004
Web of Science® Times Cited:66
Deposited By:Medicine
Deposited On:2004-08-01
Last Modified:2005-04-22

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