title: [Lattice corneal dystrophy. Detection of a point mutation in the kerato-epithelin gene].
abstract: BACKGROUND
  Lattice dystrophy is an autosomal-dominantly inherited disease. A mutation of the gene coding for kerato-epithelin has been found in patients with this stromal dystrophy. In codon 124 a Guanine to Adenine mutation of the nucleotide 417 has been described. We looked for this mutation in a family with lattice dystrophy treated in our clinic.
  
  
  METHODS
  Using primers specific for kerato-epithelin gene, we amplified the cDNA extracted from lymphocytes of two patients suffering from lattice dystrophy. The polymerase chain reaction (PCR) products were subcloned and sequenced.
  
  
  RESULTS
  Guanine to Adenine mutations, as published were detected in both of our patients at codon 124.
  
  
  CONCLUSIONS
  We found the published mutation in both of our patients, indicating that this Guanine to Adenine exchange is pathognomonic for lattice dystrophy.
authors.affiliation: Universitäts-Augenklinik Graz.
authors.forename: Y
authors.initials: Y
authors.lastname: el-Shabrawi
authors.forename: N
authors.initials: N
authors.lastname: Ardjomand
authors.forename: C
authors.initials: C
authors.lastname: Faschinger
authors.forename: G
authors.initials: G
authors.lastname: Höfler
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003062:Codon / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007633:Keratins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D003062:Codon; D007633:Keratins
vernacular_title: Gittrige Hornhautdystrophie. Nachweis einer Punktmutation im Keratoepithelin-Gen.