June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
Identification of a presumed pathogenic KRT3 gene mutation associated with Meesmann corneal dystrophy
Author Affiliations & Notes
  • Katherine Gee
    Jules Stein Eye Institute (UCLA), San Bruno, CA
  • Benjamin Ray Lin
    Jules Stein Eye Institute (UCLA), San Bruno, CA
  • Jessica Gee
    Jules Stein Eye Institute (UCLA), San Bruno, CA
  • Chulaluck Tangmonkongvoragul
    Jules Stein Eye Institute (UCLA), San Bruno, CA
  • Anthony J Aldave
    Jules Stein Eye Institute (UCLA), San Bruno, CA
  • Footnotes
    Commercial Relationships Katherine Gee, None; Benjamin Lin, None; Jessica Gee, None; Chulaluck Tangmonkongvoragul, None; Anthony Aldave, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 2530. doi:
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    • Get Citation

      Katherine Gee, Benjamin Ray Lin, Jessica Gee, Chulaluck Tangmonkongvoragul, Anthony J Aldave; Identification of a presumed pathogenic KRT3 gene mutation associated with Meesmann corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2530.

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

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Abstract

Purpose: To report a potentially pathogenic mutation in the keratin 3 gene (KRT3) in an individual with clinically diagnosed Meesmann corneal dystrophy (MCD).

Methods: Slit lamp examination was performed prior to obtaining informed consent. A saliva specimen was collected as a source of genomic DNA. PCR amplification and Sanger sequencing of the 9 exons of KRT3 and the 8 exons of the keratin 12 gene (KRT12) was performed to identify coding region sequence variants. Polyphen-2 was used to predict the functional impact of identified variants.

Results: A 60 year old man with a history of a corneal epitheliopathy since age 2 demonstrated bilateral, diffusely distributed, clear epithelial microcysts consistent with MCD. Screening of KRT3 revealed four heterozygous missense variants and one synonymous substitution, while screening of KRT12 demonstrated one heterozygous missense variant. Each identified variant has been reported to be present in >5% of the population with the exception of c.250C>T (p.(Arg84Trp)) in exon 1 of KRT3, which has a minor allele frequency (MAF) of 0.0076. This variant was not identified in more than 150 control chromosomes and is predicted to be damaging by in silico analysis using Polyphen-2.

Conclusions: We report a potentially pathogenic missense mutation (p.(Arg84Trp)) in KRT3 associated with MCD. This represents only the fourth mutation in KRT3 to be associated with MCD and the first potentially pathogenic mutation in the head domain of KRT3 exon 1.

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