title: Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
abstract: OBJECTIVE
  Meesmann corneal dystrophy (MECD) is an autosomal dominant disorder affecting the corneal epithelium. It is caused by heterozygous mutations in KRT3 or KRT12 gene. Actually, 14 mutations have been reported, 1 in KRT3 and 13 in KRT12. These genes were screened in several patients suffering from MECD.
  
  
  METHODS
  Patients from 2 families were screened for mutation in KRT3 and KRT12. Exons were PCR-amplified and directly sequenced. The new mutation was checked by DHPLC in 51 control individuals of Swiss origin.
  
  
  CONCLUSIONS
  In one family, the M129T heterozygous mutation was observed in KRT12. In the second family, we identified a novel I426S heterozygous mutation in exon 6 of KRT12.
authors.affiliation: IRO-Institut de Recherche en Ophtalmologie, Sion, Switzerland.
authors.forename: Olivia
authors.initials: O
authors.lastname: Nichini
authors.forename: Violaine d'Allèves
authors.initials: Vd
authors.lastname: Manzi
authors.forename: Francis L
authors.initials: FL
authors.lastname: Munier
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Schorderet
mesh_terms: D002851:Chromatography, High Pressure Liquid; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D019573:Epithelium, Corneal / Q000648:ultrastructure; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D053551:Keratin-12; D053558:Keratin-3; D007633:Keratins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: C507494:KRT12 protein, human; C479360:KRT3 protein, human; D053551:Keratin-12; D053558:Keratin-3; D007633:Keratins