May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Identification of a Fourth Locus for Familial Exudative Vitreoretinopathy (EVR4)
Author Affiliations & Notes
  • C. Toomes
    Molecular Medicine Unit, St James's University Hospital, University of Leeds, Leeds, United Kingdom
  • L.M. Downey
    Molecular Medicine Unit, St James's University Hospital, University of Leeds, Leeds, United Kingdom
  • H.M. Bottomley
    Molecular Medicine Unit, St James's University Hospital, University of Leeds, Leeds, United Kingdom
  • G. Woodruff
    Department of Ophthalmology, University of Leicester, Leicester, United Kingdom
  • R.C. Trembath
    Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, United Kingdom
  • C.F. Inglehearn
    Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, United Kingdom
  • Footnotes
    Commercial Relationships  C. Toomes, None; L.M. Downey, None; H.M. Bottomley, None; G. Woodruff, None; R.C. Trembath, None; C.F. Inglehearn, None.
  • Footnotes
    Support  Wellcome Trust grants 069718/Z/02, 055145/Z/98 and 035535/Z/96
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1486. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to Subscribers Only
      Sign In or Create an Account ×
    • Get Citation

      C. Toomes, L.M. Downey, H.M. Bottomley, G. Woodruff, R.C. Trembath, C.F. Inglehearn; Identification of a Fourth Locus for Familial Exudative Vitreoretinopathy (EVR4) . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1486.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Abstract: : Purpose: FZD4 was recently identified as the mutated gene causing familial exudative vitreoretinopathy (FEVR) at the EVR1 locus on chromosome 11q. The purpose of this study was to screen this gene in a large family linked to the EVR1 locus (lod score 5.5). Methods: PCR products were generated using genomic DNA from two affected family members with primers designed to amplify the coding sequence of the gene and flanking intronic sequence. The PCR products were screened for mutations by direct sequencing. Genotyping was performed in all available family members using fluorescently labelled microsatellite markers from chromosome 11q. Results: Screening of the EVR1 gene, FZD4, in this family identified no mutation. To investigate this finding further we performed high-resolution genotyping with markers spanning chromosome 11q. Haplotype analysis clearly excluded FZD4 as the mutated gene in this family and identified a candidate region approximately 10 cM centromeric to EVR1. This new region was also shown to be genetically distinct from the EVR3 locus on chromosome 11p. Conclusions: To date three FEVR loci have been mapped: EVR1 on chromosome 11q (FZD4), EVR2 on chromosome Xp (NDP) and EVR3 on chromosome 11p (unidentified). High-resolution genotyping and haplotype analysis excluded FZD4 as the mutated gene in a family previously linked to the EVR1 locus. The gene mutated in this family lies centromeric to the EVR1 locus and is also genetically distinct from the EVR3 locus. This new locus has been designated EVR4 and is the fourth FEVR locus to be described.

Keywords: linkage analysis • retinal development • genetics 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×