title: A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.
abstract: OBJECTIVE
  To report a novel mutation in the keratin 12 gene (KRT12) found in a Japanese family in association with Meesmann corneal dystrophy (MECD).
  
  
  METHODS
  After informed consent was obtained, genomic DNA was extracted from the leukocytes of the peripheral blood of the proband, her affected father, normal mother, and 50 normal unrelated volunteers. Exons 1-8 of the KRT12 gene were amplified by polymerase chain reaction and directly sequenced.
  
  
  RESULTS
  A novel heterozygous T to G transversion at the second nucleotide position of codon 433 (CTG>CGG), resulting in the replacement of leucine by arginine at codon 433 of the KRT12 gene (L433R), was detected in the proband and her affected father but not in her normal mother or the 50 controls.
  
  
  CONCLUSIONS
  The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD.
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan. setomail@med.juntendo.ac.jp.
authors.forename: Takahiko
authors.initials: T
authors.lastname: Seto
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Fujiki
authors.affiliation: Higashi-Kasai Eye Clinic, Chiba Prefecture, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Kishishita
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Takuro
authors.initials: T
authors.lastname: Fujimaki
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.affiliation: Department of Ophthalmology, Juntendo Tokyo Koto Geriatric Medical Center, Tokyo, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000328:Adult; D002648:Child; D003315:Cornea / Q000737:chemistry; D053559:Corneal Dystrophy, Juvenile Epithelial of Meesmann / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D053551:Keratin-12 / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: C507494:KRT12 protein, human; D053551:Keratin-12