A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.

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  • Additional Information
    • Source:
      Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print Cited Medium: Print ISSN: 0002-9394 (Print) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE
    • Publication Information:
      Publication: 1999- : New York, NY : Elsevier Science
      Original Publication: [Chicago, etc., Ophthalmic Pub. Co., etc.]
    • Subject Terms:
      Mutation, Missense* ; Point Mutation* ; Terminator Regions, Genetic*; Corneal Dystrophies, Hereditary/*genetics ; Keratins/*genetics; Adult ; Corneal Dystrophies, Hereditary/pathology ; DNA Mutational Analysis ; DNA Primers/chemistry ; Family ; Humans ; Male ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; United States
    • Abstract:
      Purpose: Meesmann corneal dystrophy is an autosomal dominant disorder characterized by fragility of the anterior corneal epithelium. We have previously demonstrated that this disease can be caused by mutations in the genes encoding keratins K3 or K12, the major intermediate filament proteins expressed in corneal epithelial cells. Here, we have carried out mutation analysis in a United States kindred presenting with typical features of Meesmann corneal dystrophy.
      Methods: Exons 1 and 6 of the K12 gene (KRT12) were polymerase chain reaction amplified from the proband's and control DNA and subjected to direct automated sequencing.
      Results: A heterozygous missense mutation 1300A-->G was detected in exon 6 of KRT12, predicting amino acid substitution 1426V in the helix termination motif of the K12 polypeptide. The mutation was confirmed in the proband and excluded from 50 normal individuals by restriction enzyme analysis of polymerase chain reaction products.
      Conclusion: We report a novel mutation in a critical molecular overlap region of K12 in a United States family with Meesmann corneal dystrophy. The results confirm that mutations in the corneal keratins (K3 or K12) can underlie Meesmann corneal dystrophy.
    • Grant Information:
      P01-AR38923 United States AR NIAMS NIH HHS; United Kingdom Wellcome Trust
    • Accession Number:
      0 (DNA Primers)
      68238-35-7 (Keratins)
    • Publication Date:
      Date Created: 19991228 Date Completed: 19991228 Latest Revision: 20190627
    • Publication Date:
      20240829
    • Accession Number:
      10.1016/s0002-9394(99)00317-7
    • Accession Number:
      10612503