May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Alteration in a Novel Domain of the Cytokeratin 12 Filament in Meesmann's Corneal Dystrophy
Author Affiliations & Notes
  • K. Nielsen
    Aarhus University Hospital, Aarhus, Denmark
    Ophthalmology,
  • T. F. Orntoft
    Aarhus University Hospital, Aarhus, Denmark
    Molecular Diagnostic Laboratory,
  • J. Hjortdal
    Aarhus University Hospital, Aarhus, Denmark
    Ophthalmology,
  • N. Ehlers
    Aarhus University Hospital, Aarhus, Denmark
    Ophthalmology,
  • Footnotes
    Commercial Relationships  K. Nielsen, None; T.F. Orntoft, None; J. Hjortdal, None; N. Ehlers, None.
  • Footnotes
    Support  Værn om Synet
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1017. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      K. Nielsen, T. F. Orntoft, J. Hjortdal, N. Ehlers; Alteration in a Novel Domain of the Cytokeratin 12 Filament in Meesmann's Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1017. doi: https://doi.org/.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose: : To report a mutation that affects the novel domain 2A of the cytokeratin 12 filament in Meesmann's corneal dystrophy.

Methods: : The diagnosis was based on slit-lamp biomicroscopy. DNA was isolated from blood samples from the family members. All exons of the cytokeratin 12 gene were sequenced in the oldest member of the family to identify the mutation. Exon 4 was subsequently sequenced for the remaining members.

Results: : Biomicroscopy showed numerous small reflective vesicles (microcysts) in the corneal epithelium. Molecular genetics revealed a novel mutation (929G→T) in exon 4 in all the family members with microcysts but not in members without microcysts. The missense-mutation gives rise to the putative amino acid substitution R302L in domain 2A of the intermediate filament. Hundred reference genomes were also sequenced to rule out the possibility of single nucleotide polymorphism.

Conclusions: : Mutations causing Meesmann's corneal dystrophy are either affecting domain 1A or 2B of cytokeratin 12 or affecting cytokeratin 3. Our data suggest that alterations in the small central rod domain 2A may also be disease-causing. We propose that all exons should be sequenced when establishing a genetic diagnosis. Furthermore, this new information may help better to understand how cytokeratin dimers assemble.

Keywords: genetics • cornea: epithelium 
×
×

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.

×