title: Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
abstract: OBJECTIVE
  To report a novel missense mutation of the cornea specific keratin 12 (KRT12) gene in two generations of a German family diagnosed with Meesmann;s corneal dystrophy.
  
  
  METHODS
  Ophthalmologic examination of the proband and sequencing of keratin 3 (KRT3) and KRT12 of the proband and three other family members were performed. Restriction enzyme analysis was used to confirm the detected mutation in affected individuals of the family.
  
  
  RESULTS
  Slit-lamp biomicroscopy of the proband revealed multiple intraepithelial microcysts comparable to a Meesmann dystrophy phenotype. A novel heterozygous A-->G transversion at the first nucleotide position of codon 129 (ATG>GTG, M129V) in exon 1 of KRT12 was detected in the proband, her two affected sons but not in her unaffected husband or 50 control individuals.
  
  
  CONCLUSIONS
  We have identified a novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann;s corneal dystrophy in a German family.
authors.affiliation: Department of Ophthalmology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany. ina.clausen@medizin.uni-halle.de
authors.forename: Ina
authors.initials: I
authors.lastname: Clausen
authors.forename: Gernot I W
authors.initials: GI
authors.lastname: Duncker
authors.forename: Claudia
authors.initials: C
authors.lastname: Grünauer-Kloevekorn
mesh_terms: D000225:Adenine; D000369:Aged, 80 and over; D003062:Codon; D003315:Cornea / Q000378:metabolism*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D005091:Exons; D005260:Female; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D053551:Keratin-12 / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D020125:Mutation, Missense; D011110:Polymorphism, Genetic
chemical_list: D003062:Codon; D053551:Keratin-12; D006147:Guanine; D000225:Adenine